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    Npc1 NPC intracellular cholesterol transporter 1 [ Mus musculus (house mouse) ]

    Gene ID: 18145, updated on 6-Sep-2021

    Summary

    Official Symbol
    Npc1provided by MGI
    Official Full Name
    NPC intracellular cholesterol transporter 1provided by MGI
    Primary source
    MGI:MGI:1097712
    See related
    Ensembl:ENSMUSG00000024413
    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
    lc; spm; lcsd; nmf16; C85354; nmf164; D18Ertd139; D18Ertd723; D18Ertd139e; D18Ertd723e; A430089E03Rik
    Expression
    Ubiquitous expression in lung adult (RPKM 23.0), placenta adult (RPKM 16.6) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Npc1 in Genome Data Viewer
    Location:
    18 A1; 18 6.15 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (12322751..12369851, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (12189694..12236506, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (12348203..12394895, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25289 Neighboring gene predicted gene, 19293 Neighboring gene regulator of MON1-CCZ1 Neighboring gene ankyrin repeat domain 29 Neighboring gene ecotropic viral integration site 5 pseudogene Neighboring gene laminin, alpha 3 Neighboring gene predicted gene, 36232

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    NPC intracellular cholesterol transporter 1
    Names
    Niemann-Pick type C1
    niemann-Pick C1 protein
    sphingomyelinosis

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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  NPC intracellular cholesterol transporter 1 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
      ENSMUSP00000025279.6, ENSMUST00000025279.6
      Conserved Domains (3) summary
      TIGR00917
      Location:251251
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:649802
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:23267
      NPC1_N; Niemann-Pick C1 N terminus

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      12322751..12369851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317849.3XP_017173338.1  NPC intracellular cholesterol transporter 1 isoform X1

      Conserved Domains (1) summary
      TIGR00917
      Location:251250
      2A060601; Niemann-Pick C type protein family
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