LMPD Database

LMP000261

Gene Information

Entrez Gene ID	4864
Gene Name	Niemann-Pick disease, type C1
Gene Symbol	NPC1
Species	Homo sapiens

Gene Ontology (GO Annotations)

GO ID	Source	Type	Description
GO:0005783	IDA:UniProtKB	C	endoplasmic reticulum
GO:0005768	IEA:UniProtKB-KW	C	endosome
GO:0005576	ISS:UniProtKB	C	extracellular region
GO:0070062	IDA:UniProt	C	extracellular vesicular exosome
GO:0005794	IEA:Ensembl	C	Golgi apparatus
GO:0016021	TAS:ProtInc	C	integral component of membrane
GO:0005887	IDA:UniProtKB	C	integral component of plasma membrane
GO:0005765	IDA:UniProtKB	C	lysosomal membrane
GO:0005764	ISS:UniProtKB	C	lysosome
GO:0016020	IDA:UniProtKB	C	membrane
GO:0045121	IEA:Ensembl	C	membrane raft
GO:0005635	IDA:UniProtKB	C	nuclear envelope
GO:0048471	IDA:UniProtKB	C	perinuclear region of cytoplasm
GO:0015485	IDA:UniProtKB	F	cholesterol binding
GO:0008158	IEA:InterPro	F	hedgehog receptor activity
GO:0004872	TAS:ProtInc	F	receptor activity
GO:0015248	TAS:ProtInc	F	sterol transporter activity
GO:0004888	TAS:ProtInc	F	transmembrane signaling receptor activity
GO:0007628	IEA:Ensembl	P	adult walking behavior
GO:0006914	IGI:MGI	P	autophagy
GO:0008206	ISS:UniProtKB	P	bile acid metabolic process
GO:0071404	IEA:Ensembl	P	cellular response to low-density lipoprotein particle stimulus
GO:0071383	IEA:Ensembl	P	cellular response to steroid hormone stimulus
GO:0033344	IDA:BHF-UCL	P	cholesterol efflux
GO:0042632	IDA:UniProtKB	P	cholesterol homeostasis
GO:0008203	IEA:UniProtKB-KW	P	cholesterol metabolic process
GO:0030301	IDA:UniProtKB	P	cholesterol transport
GO:0006897	IEA:Ensembl	P	endocytosis
GO:0090150	IDA:UniProt	P	establishment of protein localization to membrane
GO:0007041	ISS:UniProtKB	P	lysosomal transport
GO:0031579	IMP:UniProt	P	membrane raft organization
GO:0060548	IEA:Ensembl	P	negative regulation of cell death
GO:0016242	IEA:Ensembl	P	negative regulation of macroautophagy
GO:0006486	IDA:UniProtKB	P	protein glycosylation
GO:0046686	IEA:Ensembl	P	response to cadmium ion
GO:0042493	IEA:Ensembl	P	response to drug
GO:0007165	TAS:GOC	P	signal transduction

KEGG Pathway Links

KEGG Pathway ID	Description
hsa04142	Lysosome
ko04142	Lysosome