Homo sapiens Gene: NPC1
Summary
InnateDB Gene IDBG-1600.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPC1
Gene Name Niemann-Pick disease, type C1
Synonyms NPC;
Species Homo sapiens
Ensembl Gene ENSG00000141458
Encoded Proteins
Niemann-Pick disease, type C1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 18:23506184-23586898
Strand Reverse strand
Band q11.2
Transcripts
ENST00000269228 ENSP00000269228
ENST00000540608
ENST00000586718
ENST00000587223
ENST00000591075
ENST00000591955
ENST00000591051 ENSP00000467636
ENST00000586150 ENSP00000468321
ENST00000591107 ENSP00000468438
ENST00000590723 ENSP00000464755
ENST00000590301
ENST00000593280 ENSP00000467150
ENST00000588867
ENST00000587163
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated
Total 17 [view]
Protein-Protein 16 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004872 receptor activity
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding
GO:0008158 hedgehog receptor activity
GO:0015248 sterol transporter 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
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.691290 Hs.715623
RefSeq NM_000271
HUGO
OMIM
CCDS CCDS11878
HPRD 09622
IMGT
EMBL
GenPept
RNA Seq Atlas