Version 5.4
Homo sapiens Protein: NPC1L1
Summary
InnateDB Protein IDBP-599583.2
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPC1L1
Protein Name NPC1 (Niemann-Pick disease, type C1, gene)-like 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000438033
InnateDB Gene IDBG-14860 (NPC1L1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 1 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein 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:0015918 sterol transport
GO:0030299 intestinal cholesterol absorption
GO:0030301 cholesterol transport
GO:0042157 lipoprotein metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030659 cytoplasmic vesicle membrane
Protein Structure and Domains
PDB ID
InterPro IPR000731 Sterol-sensing domain
IPR003392 Patched
PFAM PF02460
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UHC9
PhosphoSite PhosphoSite-Q9UHC9
TrEMBL
UniProt Splice Variant
Entrez Gene 29881
UniGene Hs.567486
RefSeq
HUGO HGNC:7898
OMIM 608010
CCDS
HPRD 09725
IMGT
EMBL AC004938 AF192522 AF192523 AY437865 AY515256 BC117178 BC143756 CH236960 CH471128 FJ481111
GenPept AAF20396 AAF20397 AAI17179 AAI43757 AAR97886 AAS56939 ACL18055 EAL23753 EAW61096 EAW61097 EAW61098

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