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NPC intracellular cholesterol transporter 1

Summary

Gene Symbol

Npc1

Organism

Mus musculus (house mouse)

External Links

NCBI Gene

18145

PubChem

18145

Alliance of Genome Resources

MGI:1097712

Annotation

Keyword

Cholesterol metabolism
Disulfide bond
Endosome
Glycoprotein
Lipid transport
Lysosome
Reference proteome
Signal
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q7TMD4
O35604	Niemann-Pick C1 protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **21 - 25** of 51 in total

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GO Term	Evidence Code	PMID
neurogenesis	IMP	21697390
intestinal cholesterol absorption	IBA
cholesterol transport	ISS
cholesterol transport	ISO
cholesterol transport	IMP	21697390

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

catabolic process [inference]

cellular catabolic process [inference]

autophagy

macroautophagy

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process

cellular catabolic process [inference]

autophagy

macroautophagy

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

primary metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

glucan metabolic process [inference]

cyclodextrin metabolic process

oligosaccharide metabolic process [inference]

cyclodextrin metabolic process

lipid metabolic process [inference]

steroid metabolic process [inference]

bile acid metabolic process

sterol metabolic process

cholesterol metabolic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

small molecule metabolic process [inference]

alcohol metabolic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

glucan metabolic process [inference]

cyclodextrin metabolic process

oligosaccharide metabolic process [inference]

cyclodextrin metabolic process

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process

lipid metabolic process [inference]

steroid metabolic process [inference]

bile acid metabolic process

sterol metabolic process

cholesterol metabolic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

glucan metabolic process [inference]

cyclodextrin metabolic process

macromolecule biosynthetic process [inference]

gene expression

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

macromolecule glycosylation [inference]

protein glycosylation

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

bile acid metabolic process

sterol metabolic process

cholesterol metabolic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process

bile acid metabolic process

sterol metabolic process

cholesterol metabolic process

cellular process [inference]

cell death [inference]

programmed cell death

vesicle-mediated transport [inference]

endocytosis

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process

cellular catabolic process [inference]

autophagy

macroautophagy

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular developmental process [inference]

cell differentiation [inference]

neurogenesis

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

localization within membrane [inference]

protein localization to membrane [inference]

establishment of protein localization to membrane

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

establishment of protein localization to membrane

protein localization to membrane [inference]

establishment of protein localization to membrane

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to hormone stimulus [inference]

cellular response to steroid hormone stimulus

cellular response to lipid [inference]

cellular response to steroid hormone stimulus

cellular response to organic cyclic compound [inference]

cellular response to steroid hormone stimulus

cellular response to lipoprotein particle stimulus [inference]

cellular response to low-density lipoprotein particle stimulus

process utilizing autophagic mechanism [inference]

autophagy

macroautophagy

cellular component organization or biogenesis [inference]

cellular component organization [inference]

membrane organization [inference]

membrane raft organization

multicellular organismal process [inference]

system process [inference]

digestive system process [inference]

intestinal absorption [inference]

intestinal lipid absorption [inference]

intestinal cholesterol absorption

behavior [inference]

locomotory behavior [inference]

adult locomotory behavior [inference]

adult walking behavior

walking behavior [inference]

adult walking behavior

adult behavior [inference]

adult locomotory behavior [inference]

adult walking behavior

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

gland development [inference]

liver development

cellular developmental process [inference]

cell differentiation [inference]

neurogenesis

homeostatic process [inference]

chemical homeostasis [inference]

lipid homeostasis [inference]

sterol homeostasis [inference]

cholesterol homeostasis

biological process involved in interspecies interaction between organisms [inference]

biological process involved in symbiotic interaction [inference]

biological process involved in interaction with host [inference]

movement in host [inference]

entry into host [inference]

viral entry into host cell

response to stimulus [inference]

response to endogenous stimulus [inference]

response to hormone [inference]

cellular response to hormone stimulus [inference]

cellular response to steroid hormone stimulus

response to steroid hormone [inference]

cellular response to steroid hormone stimulus

response to lipoprotein particle [inference]

cellular response to low-density lipoprotein particle stimulus

cellular response to endogenous stimulus [inference]

cellular response to hormone stimulus [inference]

cellular response to steroid hormone stimulus

response to chemical [inference]

response to xenobiotic stimulus

response to organic substance [inference]

response to hormone [inference]

cellular response to hormone stimulus [inference]

cellular response to steroid hormone stimulus

response to steroid hormone [inference]

cellular response to steroid hormone stimulus

response to organonitrogen compound [inference]

response to lipoprotein particle [inference]

cellular response to low-density lipoprotein particle stimulus

response to organic cyclic compound [inference]

response to steroid hormone [inference]

cellular response to steroid hormone stimulus

cellular response to organic cyclic compound [inference]

cellular response to steroid hormone stimulus

response to lipid [inference]

response to steroid hormone [inference]

cellular response to steroid hormone stimulus

cellular response to lipid [inference]

cellular response to steroid hormone stimulus

cellular response to organic substance [inference]

cellular response to hormone stimulus [inference]

cellular response to steroid hormone stimulus

cellular response to lipid [inference]

cellular response to steroid hormone stimulus

cellular response to organic cyclic compound [inference]

cellular response to steroid hormone stimulus

response to inorganic substance [inference]

response to metal ion [inference]

response to cadmium ion

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to hormone stimulus [inference]

cellular response to steroid hormone stimulus

cellular response to lipid [inference]

cellular response to steroid hormone stimulus

cellular response to organic cyclic compound [inference]

cellular response to steroid hormone stimulus

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

response to lipoprotein particle [inference]

cellular response to low-density lipoprotein particle stimulus

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to hormone stimulus [inference]

cellular response to steroid hormone stimulus

cellular response to lipid [inference]

cellular response to steroid hormone stimulus

cellular response to organic cyclic compound [inference]

cellular response to steroid hormone stimulus

cellular response to lipoprotein particle stimulus [inference]

cellular response to low-density lipoprotein particle stimulus

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

establishment of protein localization to membrane

protein localization to membrane [inference]

establishment of protein localization to membrane

establishment of localization [inference]

transport [inference]

vesicle-mediated transport [inference]

endocytosis

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

intestinal absorption [inference]

intestinal lipid absorption [inference]

intestinal cholesterol absorption

organic substance transport [inference]

lipid transport [inference]

sterol transport

cholesterol transport

intracellular sterol transport [inference]

intracellular cholesterol transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

intestinal lipid absorption [inference]

intestinal cholesterol absorption

organic hydroxy compound transport [inference]

sterol transport

cholesterol transport

intracellular sterol transport [inference]

intracellular cholesterol transport

import into cell [inference]

endocytosis

establishment of protein localization [inference]

establishment of protein localization to membrane

establishment of localization in cell

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

maintenance of location [inference]

lipid storage [inference]

cholesterol storage

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

localization within membrane [inference]

protein localization to membrane [inference]

establishment of protein localization to membrane

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

establishment of protein localization to membrane

protein localization to membrane [inference]

establishment of protein localization to membrane

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of catabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of macroautophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of macroautophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

regulation of TORC1 signaling [inference]

negative regulation of TORC1 signaling

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of epithelial cell apoptotic process

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

regulation of TORC1 signaling [inference]

negative regulation of TORC1 signaling

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

regulation of TORC1 signaling [inference]

negative regulation of TORC1 signaling

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of macroautophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process [inference]

negative regulation of epithelial cell apoptotic process

regulation of epithelial cell apoptotic process [inference]

negative regulation of epithelial cell apoptotic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of epithelial cell apoptotic process

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling [inference]

negative regulation of TORC1 signaling

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of epithelial cell apoptotic process

Displaying entries **21 - 22** of 22 in total

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GO Term	Evidence Code	PMID
perinuclear region of cytoplasm	ISS
perinuclear region of cytoplasm	ISO

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular region

membrane

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

endosome membrane [inference]

late endosome membrane

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

endosome membrane [inference]

late endosome membrane

membrane microdomain [inference]

membrane raft

envelope [inference]

organelle envelope [inference]

nuclear envelope

organelle [inference]

membrane-bounded organelle [inference]

vesicle

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

perinuclear region of cytoplasm

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
lipid transporter activity
protein binding	IPI	16757520 22065762 34237247
cholesterol binding	ISS
cholesterol binding	ISO
cholesterol binding	IBA

GO Hierarchy

molecular function

transporter activity [inference]

lipid transporter activity

sterol transporter activity [inference]

sterol transfer activity [inference]

cholesterol transfer activity

lipid transfer activity [inference]

sterol transfer activity [inference]

cholesterol transfer activity

binding [inference]

protein binding

lipid binding [inference]

steroid binding [inference]

sterol binding [inference]

cholesterol binding

small molecule binding [inference]

alcohol binding [inference]

cholesterol binding

organic cyclic compound binding [inference]

steroid binding [inference]

sterol binding [inference]

cholesterol binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

transporter

Functional Category

E: Amino acid transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
cholesterol binding
intestinal cholesterol absorption
lipid transport
sterol transport

Displaying **all 3** entries
InterPro
Niemann-Pick C1, N-terminal
Protein patched/dispatched
Sterol-sensing domain

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0070113	Niemann-Pick disease type C1	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements