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    Npc1l1 NPC1 like intracellular cholesterol transporter 1 [ Mus musculus (house mouse) ]

    Gene ID: 237636, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Npc1l1provided by MGI
    Official Full Name
    NPC1 like intracellular cholesterol transporter 1provided by MGI
    Primary source
    MGI:MGI:2685089
    See related
    Ensembl:ENSMUSG00000020447 AllianceGenome:MGI:2685089
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm243; 9130221N23Rik
    Summary
    Predicted to enable several functions, including cholesterol binding activity; myosin V binding activity; and protein homodimerization activity. Involved in cholesterol transport and intestinal cholesterol absorption. Acts upstream of or within cholesterol homeostasis. Predicted to be located in apical plasma membrane and brush border membrane. Predicted to be active in plasma membrane. Orthologous to human NPC1L1 (NPC1 like intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in small intestine adult (RPKM 209.5), duodenum adult (RPKM 153.8) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Npc1l1 in Genome Data Viewer
    Location:
    11 A1; 11 3.93 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (6161011..6180245, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (6211011..6230245, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene calcium/calmodulin-dependent protein kinase II, beta Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:5900191-5900374 Neighboring gene STARR-positive B cell enhancer ABC_E11764 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:5917894-5918003 Neighboring gene NudC domain containing 3 Neighboring gene STARR-seq mESC enhancer starr_28452 Neighboring gene STARR-seq mESC enhancer starr_28454 Neighboring gene ribosomal protein S15A, pseudogene 6 Neighboring gene STARR-positive B cell enhancer ABC_E10663 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:6100447-6100630 Neighboring gene STARR-seq mESC enhancer starr_28456 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:6167755-6167938 Neighboring gene predicted gene 11401 Neighboring gene DEAD box helicase 56

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Bile acids-mediated intracellular cholesterol transport promotes intestinal cholesterol absorption and NPC1L1 recycling. Xiao J, et al. Nat Commun, 2023 Oct 13. PMID 37833289, Free PMC Article
    2. Niemann-Pick C1 Like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis. Davis HR Jr, et al. J Biol Chem, 2004 Aug 6. PMID 15173162
    3. Cholesterol-regulated translocation of NPC1L1 to the cell surface facilitates free cholesterol uptake. Yu L, et al. J Biol Chem, 2006 Mar 10. PMID 16407187
    4. Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse. Garver WS, et al. J Cell Biochem, 2007 May 15. PMID 17216601
    5. Multiple plasma membrane receptors but not NPC1L1 mediate high-affinity, ezetimibe-sensitive cholesterol uptake into the intestinal brush border membrane. Knöpfel M, et al. Biochim Biophys Acta, 2007 Sep. PMID 17689140

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.
      Title: Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.
    2. Bile acids-mediated intracellular cholesterol transport promotes intestinal cholesterol absorption and NPC1L1 recycling.
      Title: Bile acids-mediated intracellular cholesterol transport promotes intestinal cholesterol absorption and NPC1L1 recycling.
    3. NPC1L1 Deficiency Suppresses Ileal Fibroblast Growth Factor 15 Expression and Increases Bile Acid Pool Size in High-Fat-Diet-Fed Mice.
      Title: NPC1L1 Deficiency Suppresses Ileal Fibroblast Growth Factor 15 Expression and Increases Bile Acid Pool Size in High-Fat-Diet-Fed Mice.
    4. NPC1L1-dependent transport of 27-alkyne cholesterol in intestinal epithelial cells.
      Title: NPC1L1-dependent transport of 27-alkyne cholesterol in intestinal epithelial cells.
    5. NPC1L1 Facilitates Sphingomyelin Absorption and Regulates Diet-Induced Production of VLDL/LDL-associated S1P.
      Title: NPC1L1 Facilitates Sphingomyelin Absorption and Regulates Diet-Induced Production of VLDL/LDL-associated S1P.
    6. Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins.
      Title: Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins.
    7. Hepatic NPC1L1 overexpression attenuates alcoholic autophagy in mice.
      Title: Hepatic NPC1L1 overexpression attenuates alcoholic autophagy in mice.
    8. Results revealed that hepatic NPC1L1 exacerbates diet-induced dyslipidemia and atherosclerosis when intestinal NPC1L1 is functional.
      Title: Hepatic Expression of Niemann-Pick C1-Like 1, a Cholesterol Reabsorber from Bile, Exacerbates Western Diet-Induced Atherosclerosis in LDL Receptor Mutant Mice.
    9. TGIF1 represses Niemann-Pick C1 like 1 (Npc1l1) promoter activity in intestines, lowering intestinal cholesterol absorption.
      Title: Overexpression of transforming growth factor β induced factor homeobox 1 represses NPC1L1 and lowers markers of intestinal cholesterol absorption.
    10. The present study demonstrated that OPN deficiency reduced intestinal absorption of cholesterol by suppressing the expression of NPC1L1, thus protecting mice from cholesterol gallstone formation.
      Title: Osteopontin deficiency protects mice from cholesterol gallstone formation by reducing expression of intestinal NPC1L1.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (4)  1 citation

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cholesterol binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables heterocyclic compound binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin V binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables vitamin E binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to sterol depletion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cholesterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol import ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intestinal cholesterol absorption IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intestinal cholesterol absorption IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intestinal cholesterol absorption ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lipoprotein metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vitamin E metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vitamin transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in brush border membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    NPC1-like intracellular cholesterol transporter 1
    Names
    NPC1-like 1
    Niemann-Pick disease, type C1
    Niemann-Pick disease, type C1-like 1
    niemann-Pick C1-like protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_207242.2 → NP_997125.2  NPC1-like intracellular cholesterol transporter 1 precursor

      See identical proteins and their annotated locations for NP_997125.2

      Status: VALIDATED

      Source sequence(s)
      AV377091, BB872216, BC131788, CJ191424
      Consensus CDS
      CCDS24413.1
      UniProtKB/Swiss-Prot
      Q5SVX1, Q6T3U4
      UniProtKB/TrEMBL
      Z4YJC9
      Related
      ENSMUSP00000004505.3, ENSMUST00000004505.3
      Conserved Domains (3) summary
      TIGR00917
      Location:32 → 1267
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:684 → 815
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:30 → 283
      NPC1_N; Niemann-Pick C1 N terminus

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      6161011..6180245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004936946.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6T3U4.1 GenPept UniProtKB/Swiss-Prot:Q6T3U4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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