Version 5.4
Mus musculus Gene: Npc1l1
Summary
InnateDB Gene IDBG-146406.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Npc1l1
Gene Name NPC1-like 1
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000020447
Encoded Proteins
IDBP-146408
NPC1-like 1
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 ENSG00000015520:
The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:6211013-6230143
Strand Reverse strand
Band A1
Transcripts
ENSMUST00000004505 ENSMUSP00000004505
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 2 interaction(s) predicted by orthology.
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008144 drug binding
GO:0008158 hedgehog receptor activity
GO:0017137 Rab GTPase binding
GO:0031489 myosin V binding
Biological Process
GO:0006695 cholesterol biosynthetic process
GO:0007165 signal transduction
GO:0030299 intestinal cholesterol absorption
GO:0030301 cholesterol transport
GO:0042157 lipoprotein metabolic process
GO:0042493 response to drug
Cellular Component
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031526 brush border membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000015520
View Gene Order
ENSBTAG00000044146
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu04975
Fat digestion and absorption pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa04975
Fat digestion and absorption pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL Z4YJC9
UniProt Splice Variant
Entrez Gene 237636
UniGene Mm.212492
RefSeq NM_207242 XM_006514693
OMIM
CCDS CCDS24413
HPRD
IMGT
MGI ID MGI:2685089
MGI Symbol Npc1l1
EMBL AL607152 CH466574
GenPept EDL40576
RNA Seq Atlas 237636

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