InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: NPC1

Summary

InnateDB Gene

IDBG-643938.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NPC1

Gene Name

Niemann-Pick C1 protein precursor

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000015195

Encoded Proteins

IDBP-696544

Niemann-Pick C1 protein

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 24:33438419-33485514

Strand

Forward strand

Band

Transcripts

ENSBTAT00000020219

ENSBTAP00000020219

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 7 interaction(s) predicted by orthology.

Predicted by orthology
Total	7 [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:0007165	signal transduction
GO:0007628	adult walking behavior
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: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:0031982	vesicle
GO:0045121	membrane raft
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Homo sapiens

Mus musculus

Gene ID

Gene Order

ENSG00000141458

View Gene Order

ENSMUSG00000024413

View Gene Order

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

KEGG

hsa04142

Lysosome pathway

mmu04142

Lysosome pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Bt.7157

RefSeq

NM_174758 XM_005224082

HUGO

OMIM

CCDS

HPRD

IMGT

EMBL

GenPept

RNA Seq Atlas