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    Npc1 Niemann-Pick type C1 [ Mus musculus (house mouse) ]

    Gene ID: 18145, updated on 16-Aug-2015
    Official Symbol
    Npc1provided by MGI
    Official Full Name
    Niemann-Pick type C1provided by MGI
    Primary source
    MGI:MGI:1097712
    See related
    Ensembl:ENSMUSG00000024413; Vega:OTTMUSG00000028201
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    spm; lcsd; C85354; nmf164; D18Ertd139e; D18Ertd723e; A430089E03Rik
    Orthologs
    See Npc1 in Epigenomics, MapViewer
    Location:
    18 A1; 18 6.15 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    105 current GRCm38.p3 (GCF_000001635.23) 18 NC_000084.6 (12189694..12236386, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (12348203..12394895, complement)

    Chromosome 18 - NC_000084.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 3110002H16 gene Neighboring gene RIO kinase 3 Neighboring gene Friend of PRMT1 protein-like Neighboring gene ankyrin repeat domain 29 Neighboring gene ecotropic viral integration site 5 pseudogene Neighboring gene laminin, alpha 3 Neighboring gene predicted gene, 36232

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    cholesterol binding ISO
    Inferred from Sequence Orthology
    more info
     
    hedgehog receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adult walking behavior IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    autophagy ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cellular response to low-density lipoprotein particle stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to steroid hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
     
    cholesterol homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of protein localization to membrane ISO
    Inferred from Sequence Orthology
    more info
     
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    membrane raft organization ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell death ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of macroautophagy IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cholesterol homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    protein glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein glycosylation ISO
    Inferred from Sequence Orthology
    more info
     
    response to cadmium ion ISO
    Inferred from Sequence Orthology
    more info
     
    response to drug IDA
    Inferred from Direct Assay
    more info
    PubMed 
    steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    viral entry into host cell ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
     
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    Niemann-Pick C1 protein
    Names
    Niemann Pick type C1
    sphingomyelinosis

    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_008720.2NP_032746.2  Niemann-Pick C1 protein precursor

      See identical proteins and their annotated locations for NP_032746.2

      Status: VALIDATED

      Source sequence(s)
      AK003935, BC052437, CF585180
      Consensus CDS
      CCDS29064.1
      UniProtKB/Swiss-Prot
      O35604
      UniProtKB/TrEMBL
      Q7TMD4
      Related
      ENSMUSP00000025279, OTTMUSP00000035538, ENSMUST00000025279, OTTMUST00000069856
      Conserved Domains (2) summary
      pfam12349
      Location:649802
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      TIGR00917
      Location:251251
      2A060601; Niemann-Pick C type protein family

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105

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

    Reference GRCm38.p3 C57BL/6J

    Genomic

    1. NC_000084.6 Reference GRCm38.p3 C57BL/6J

      Range
      12189694..12236386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Mm_Celera

    Genomic

    1. AC_000040.1 Alternate Mm_Celera

      Range
      12423091..12469783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)