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Guidelines

MIRAGE

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
O35604	Niemann-Pick C1 protein
Q7TMD4

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 51 in total

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GO Term	Evidence Code	PMID
liver development	IMP	21289032
protein glycosylation	ISO
protein glycosylation	IDA	22065762
endocytosis	IMP	15078881
autophagy	ISO	19074461

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]

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]

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]

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]

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

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GO Term	Evidence Code	PMID
extracellular region	IDA	22065762
nuclear envelope	ISS
nuclear envelope	ISO
nuclear envelope	IDA	20457914
lysosome	IDA	10787428 21289032 21896731 22065762

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular region

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]

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

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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

Rodentia

Group Name

NPC intracellular cholesterol transporter 1

Functional Category

C: Energy production and conversion
K: Transcription
T: Signal transduction mechanisms

Displaying **all 6** entries
Gene Ontology
cholesterol binding
cholesterol transport
intestinal cholesterol absorption
lipid transport
lipid transporter activity
sterol transport

Displaying **all 4** entries
InterPro
NPC1-like
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

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Homo sapiens	4864	Xenbase:XB-GENE-984654	HUMAN37875
Xenopus tropicalis	18145	Xenbase:XB-GENE-984654
Saccharomyces cerevisiae S288C	29881	SGD:S000005927
Saccharomyces cerevisiae S288C	33072	SGD:S000005927
Xenopus tropicalis	176165	Xenbase:XB-GENE-984654
Danio rerio	180719	ZFIN:ZDB-GENE-030131-3161
Rattus norvegicus	266732		RATNO13609
Bos taurus	286772		BOVIN19543
Sus scrofa	397591		PIGXX29878
Canis lupus familiaris	403698		CANLF17580

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Last updated: March 31, 2025