Version 5.4
Mus musculus Gene: Npc1
Summary
InnateDB Gene IDBG-128877.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Npc1
Gene Name Niemann Pick type C1
Synonyms A430089E03Rik; C85354; D18Ertd139e; D18Ertd723e; lcsd; nmf164; spm
Species Mus musculus
Ensembl Gene ENSMUSG00000024413
Encoded Proteins
IDBP-128879
Niemann Pick type C1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000141458:
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:12189693-12236400
Strand Reverse strand
Band A1
Transcripts
ENSMUST00000025279 ENSMUSP00000025279
ENSMUST00000145771
ENSMUST00000133112
ENSMUST00000149211
ENSMUST00000144435
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008158 hedgehog receptor activity
GO:0015485 cholesterol binding
Biological Process
GO:0006486 protein glycosylation
GO:0006897 endocytosis
GO:0006914 autophagy
GO:0007041 lysosomal transport
GO:0007165 signal transduction
GO:0007628 adult walking behavior
GO:0008203 cholesterol metabolic process
GO:0008206 bile acid metabolic process
GO:0016242 negative regulation of macroautophagy
GO:0030301 cholesterol transport
GO:0031579 membrane raft organization
GO:0033344 cholesterol efflux
GO:0042493 response to drug
GO:0042632 cholesterol homeostasis
GO:0046686 response to cadmium ion
GO:0060548 negative regulation of cell death
GO:0071383 cellular response to steroid hormone stimulus
GO:0071404 cellular response to low-density lipoprotein particle stimulus
GO:0090150 establishment of protein localization to membrane
Cellular Component
GO:0005576 extracellular region
GO:0005635 nuclear envelope
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031902 late endosome membrane
GO:0031982 vesicle
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000141458
View Gene Order
ENSBTAG00000015195
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu04142
Lysosome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.3484 Mm.385635 Mm.461265
RefSeq NM_008720 XM_006525717
OMIM
CCDS CCDS29064
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca