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NPC1 like intracellular cholesterol transporter 1

Summary

Gene Symbol

NPC1L1

Organism

Homo sapiens (human)

External Links

NCBI Gene

29881

PubChem

29881

Alliance of Genome Resources

HGNC:7898

Annotation

Keyword

3D-structure
Alternative splicing
Cell membrane
Cholesterol metabolism
Cytoplasmic vesicle
Disulfide bond
Glycoprotein
Proteomics identification
Reference proteome
Signal
Transmembrane helix
Transport

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q9UHC9	Niemann-Pick C1-like protein 1
A0A0C4DFX6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
cellular response to sterol depletion	IDA	19325169
cholesterol biosynthetic process	IMP	17140581
intestinal cholesterol absorption	IBA IMP	17140581
cholesterol transport	IMP	17140581 24336247
vitamin transport	IDA	18403720 28315682

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

lipoprotein metabolic process

biosynthetic process [inference]

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular metabolic process [inference]

heterocycle metabolic process [inference]

vitamin E metabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

protein metabolic process [inference]

lipoprotein metabolic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

vitamin metabolic process [inference]

fat-soluble vitamin metabolic process [inference]

vitamin E metabolic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

lipoprotein metabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

vitamin E metabolic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

lipoprotein metabolic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

vitamin E metabolic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

heterocycle metabolic process [inference]

vitamin E metabolic process

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to sterol depletion

multicellular organismal process [inference]

system process [inference]

digestive system process [inference]

intestinal absorption [inference]

intestinal lipid absorption [inference]

intestinal cholesterol absorption

homeostatic process [inference]

chemical homeostasis [inference]

lipid homeostasis [inference]

sterol homeostasis [inference]

cholesterol homeostasis

response to stimulus [inference]

response to stress [inference]

response to sterol depletion [inference]

cellular response to sterol depletion

cellular response to stress [inference]

cellular response to sterol depletion

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to sterol depletion

localization [inference]

establishment of localization [inference]

transport [inference]

intestinal absorption [inference]

intestinal lipid absorption [inference]

intestinal cholesterol absorption

vitamin transport

organic substance transport [inference]

lipid transport [inference]

sterol transport

cholesterol transport

intestinal cholesterol absorption

intestinal lipid absorption [inference]

intestinal cholesterol absorption

organic hydroxy compound transport [inference]

sterol transport

cholesterol transport

intestinal cholesterol absorption

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cytoplasmic vesicle membrane	IEA
apical plasma membrane	IEA
plasma membrane	IBA IDA TAS	19325169 24336247

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane

plasma membrane region [inference]

apical plasma membrane

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

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GO Term	Evidence Code	PMID
protein binding	IPI	19542231 22095670 24336247 29880681
vitamin E binding	IDA	28315682
small GTPase binding	IPI	19542231
cholesterol binding	IBA IDA	21602275 34407950
myosin V binding	IPI	19542231

GO Hierarchy

molecular function

binding [inference]

protein binding

cytoskeletal protein binding [inference]

myosin binding [inference]

myosin V binding

enzyme binding [inference]

GTPase binding [inference]

small GTPase binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

lipid binding [inference]

steroid binding [inference]

sterol binding [inference]

cholesterol binding

small molecule binding [inference]

vitamin binding [inference]

vitamin E binding

alcohol binding [inference]

cholesterol binding

heterocyclic compound binding [inference]

vitamin E binding

organic cyclic compound binding [inference]

steroid binding [inference]

sterol binding [inference]

cholesterol binding

vitamin E binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

patched

Functional Category

J: Translation, ribosomal structure and biogenesis
K: Transcription
T: Signal transduction mechanisms

Displaying **all 2** entries
InterPro
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

Displaying entries **1 - 10** of 91 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	33072		FB:FBgn0261675
Drosophila melanogaster	34358		FB:FBgn0024320
Caenorhabditis elegans	180719		WB:WBGene00003561
Mus musculus	237636		MGI:2685089	MOUSE06870
Rattus norvegicus	432367		RGD:1303135	RATNO08871
Pan troglodytes	463381	9598_0:001fde		PANTR40165
Bos taurus	539550			BOVIN28250
Macaca mulatta	699235			MACMU33024
Saccharomyces cerevisiae S288C	856101		SGD:S000005927
Oryctolagus cuniculus	100009042			RABIT01731