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Guidelines

MIRAGE

NPC intracellular cholesterol transporter 1

Summary

Gene Symbol

NPC1

Aliases

SLC65A1

Organism

Homo sapiens (human)

External Links

NCBI Gene

4864

HGNC

7897

KEGG Gene ID

PubChem

4864

Alliance of Genome Resources

HGNC:7897

Annotation

Keyword

3D-structure
Alternative splicing
Cholesterol metabolism
Disease variant
Disulfide bond
Endosome
Glycoprotein
Host cell receptor for virus entry
Host-virus interaction
Lipid transport
Lysosome
Niemann-Pick disease
Proteomics identification
Reference proteome
Signal
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
O15118	Niemann-Pick C1 protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 38 in total

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GO Term	Evidence Code	PMID
liver development
endocytosis
autophagy	IGI
lysosomal transport	ISS
adult walking behavior

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

catabolic process [inference]

macroautophagy

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

glucan metabolic process [inference]

cyclodextrin metabolic process

macromolecule biosynthetic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process

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 [inference]

cholesterol metabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process

cell death [inference]

programmed cell death

intercellular transport [inference]

lysosome to ER cholesterol transport

vesicle-mediated transport [inference]

cellular developmental process [inference]

cell differentiation [inference]

neurogenesis

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

lysosome to ER cholesterol transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

lysosome to ER cholesterol transport

localization within membrane [inference]

establishment of protein localization to membrane

cellular response to stimulus [inference]

cellular response to chemical stimulus [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 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

nutrient storage [inference]

lipid storage [inference]

cholesterol storage

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 gross anatomical part developmental process [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]

symbiont entry into host [inference]

symbiont 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 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 metal ion [inference]

response to cadmium ion

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

response to lipoprotein particle [inference]

cellular response to low-density lipoprotein particle stimulus

cellular response to chemical stimulus [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 stimulus [inference]

cellular response to chemical stimulus [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 lipoprotein particle stimulus [inference]

cellular response to low-density lipoprotein particle stimulus

localization [inference]

establishment of localization [inference]

transport [inference]

lipid transport [inference]

sterol transport

cholesterol transport

intracellular cholesterol transport

lysosome to ER cholesterol transport

cholesterol efflux

intracellular sterol transport [inference]

intracellular cholesterol transport

lysosome to ER cholesterol transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

lysosome to ER cholesterol transport

intercellular transport [inference]

lysosome to ER cholesterol transport

organic hydroxy compound transport [inference]

sterol transport

cholesterol transport

intracellular cholesterol transport

lysosome to ER cholesterol transport

cholesterol efflux

intracellular sterol transport [inference]

intracellular cholesterol transport

lysosome to ER cholesterol transport

vesicle-mediated transport [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

lysosome to ER cholesterol transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

lysosome to ER cholesterol transport

import into cell [inference]

endocytosis

establishment of protein localization [inference]

establishment of protein localization to membrane

establishment of localization in cell [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

lysosome to ER cholesterol transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

lysosome to ER cholesterol transport

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

lysosome to ER cholesterol transport

intracellular lipid transport

intracellular sterol transport [inference]

intracellular cholesterol transport

lysosome to ER cholesterol transport

localization within membrane [inference]

establishment of protein localization to membrane

biological regulation [inference]

regulation of biological process [inference]

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 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 metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

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 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 metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of 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 autophagy [inference]

negative regulation of macroautophagy

regulation of autophagy [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of macroautophagy [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 metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

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 programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of epithelial cell apoptotic process

Displaying entries **16 - 20** of 29 in total

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GO Term	Evidence Code	PMID
plasma membrane	IDA
plasma membrane	IBA
plasma membrane	IEA
membrane	TAS
membrane	IEA

GO Hierarchy

cellular component

cellular anatomical structure [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

organelle envelope [inference]

nuclear envelope

organelle [inference]

membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

perinuclear region of cytoplasm

side of membrane [inference]

cytoplasmic side of membrane [inference]

cytoplasmic side of lysosomal membrane

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GO Term	Evidence Code	PMID
virus receptor activity
transmembrane signaling receptor activity	TAS
lipid carrier activity	IEA
protein binding	IPI
cholesterol binding	IBA

GO Hierarchy

molecular function

transporter activity [inference]

lipid transfer activity [inference]

sterol transfer activity [inference]

cholesterol transfer activity

binding [inference]

protein binding

exogenous protein binding [inference]

virus receptor activity

lipid binding [inference]

steroid binding [inference]

sterol binding [inference]

cholesterol binding

small molecule binding [inference]

alcohol binding [inference]

cholesterol binding

molecular transducer activity [inference]

signaling receptor activity

transmembrane signaling receptor activity

molecular carrier activity [inference]

lipid carrier activity

lipid transfer activity [inference]

sterol transfer activity [inference]

cholesterol transfer activity

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0070113	Niemann-Pick disease type C1	Glyco-Disease Genes Database Alliance of Genome Resources

Ortholog

Displaying **all 5** entries
Species	Gene ID	Alliance of Genome Resources
Caenorhabditis elegans	176165	WB:WBGene00003562
Caenorhabditis elegans	180719	WB:WBGene00003561
Mus musculus	18145	MGI:1097712
Saccharomyces cerevisiae S288C	856101	SGD:S000005927
Drosophila melanogaster	33072	FB:FBgn0261675

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Last updated: April 6, 2026