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

Gene ID: 18145, updated on 31-Jan-2023

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 AllianceGenome:MGI:1097712
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
spm; lcsd; nmf164; D18Ertd139e; D18Ertd723e; A430089E03Rik
Summary
Predicted to enable cholesterol binding activity. Involved in several processes, including cholesterol homeostasis; protein glycosylation; and viral entry into host cell. Acts upstream of or within several processes, including adult walking behavior; cellular response to low-density lipoprotein particle stimulus; and cholesterol efflux. Located in several cellular components, including Golgi apparatus; membrane raft; and nuclear envelope. Is expressed in several structures, including genitourinary system; liver; lung; spleen; and stomach. Used to study Niemann-Pick disease and Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung adult (RPKM 23.0), placenta adult (RPKM 16.6) and 27 other tissues See more
Orthologs
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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)

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
acts_upstream_of_or_within establishment of localization in cell 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 intestinal cholesterol absorption IBA
Inferred from Biological aspect of Ancestor
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
 
acts_upstream_of macroautophagy IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane raft organization ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of TORC1 signaling 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 lysosomal 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
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
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)

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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_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, O35605
    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