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

    Gene ID: 237636, updated on 29-Aug-2017
    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 Vega:OTTMUSG00000000776
    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
    Orthologs
    Location:
    11; 11 A1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 11 NC_000077.6 (6211011..6230245, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (6111014..6130248, complement)

    Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 46269 Neighboring gene NudC domain containing 3 Neighboring gene ribosomal protein S15A, pseudogene 6 Neighboring gene predicted gene 11401 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 56

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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    Rab GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    drug binding ISO
    Inferred from Sequence Orthology
    more info
     
    lipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    myosin V binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    cholesterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    intestinal cholesterol absorption ISO
    Inferred from Sequence Orthology
    more info
     
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    brush border membrane ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    Niemann-Pick C1-like protein 1
    Names
    NPC1-like 1
    Niemann-Pick disease, type C1
    Niemann-Pick disease, type C1-like 1

    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_207242.2NP_997125.2  Niemann-Pick C1-like protein 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/TrEMBL
      A3KMG9, Z4YJC9
      Related
      ENSMUSP00000004505.2, OTTMUSP00000000725, ENSMUST00000004505.2, OTTMUST00000001518
      Conserved Domains (3) summary
      TIGR00917
      Location:321267
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:684815
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:30283
      NPC1_N; Niemann-Pick C1 N terminus

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000077.6 Reference GRCm38.p4 C57BL/6J

      Range
      6211011..6230245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514693.3XP_006514756.1  Niemann-Pick C1-like protein 1 isoform X1

      Conserved Domains (3) summary
      TIGR00917
      Location:32938
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:684815
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:30283
      NPC1_N; Niemann-Pick C1 N terminus
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