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NPC intracellular cholesterol transporter 2

Summary

Gene Symbol

NPC2

Aliases

EDDM1
HE1
NP-C2
epididymal protein 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

10577

HGNC

14537

PubChem

10577

Alliance of Genome Resources

HGNC:14537

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Cholesterol metabolism
Direct protein sequencing
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Lipid transport
Lysosome
Niemann-Pick disease
Reference proteome
Secreted
Signal

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A024R6C0	Epididymal secretory protein E1
P61916	Epididymal secretory protein E1 Human epididymis-specific protein 1 Niemann-Pick disease type C2 protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
intracellular cholesterol transport	IBA IDA IGI IMP	15937921 17018531 18823126 19723497 27238017
cholesterol metabolic process	IEA
cholesterol storage	IEA
cholesterol homeostasis	IDA IMP	12719428 15937921
phospholipid transport	TAS	17018531

GO Hierarchy

biological process

metabolic process [inference]

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]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

sterol metabolic process [inference]

cholesterol metabolic process

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

sterol metabolic process [inference]

cholesterol metabolic process

cellular process [inference]

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular localization [inference]

intracellular transport [inference]

intracellular lipid transport [inference]

intracellular sterol transport

intracellular cholesterol transport

homeostatic process [inference]

chemical homeostasis [inference]

lipid homeostasis [inference]

sterol homeostasis [inference]

cholesterol homeostasis

biological process involved in interspecies interaction between organisms [inference]

response to other organism [inference]

response to virus

response to stimulus [inference]

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus

localization [inference]

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

intracellular lipid transport [inference]

intracellular sterol transport

intracellular cholesterol transport

organic substance transport [inference]

lipid transport [inference]

phospholipid transport

sterol transport [inference]

cholesterol transport

intracellular sterol transport

intracellular cholesterol transport

intracellular lipid transport [inference]

intracellular sterol transport

intracellular cholesterol transport

glycolipid transport

organophosphate ester transport [inference]

phospholipid transport

organic hydroxy compound transport [inference]

sterol transport [inference]

cholesterol transport

intracellular sterol transport

intracellular cholesterol transport

carbohydrate derivative transport [inference]

glycolipid transport

establishment of localization in cell [inference]

intracellular transport [inference]

intracellular lipid transport [inference]

intracellular sterol transport

intracellular cholesterol transport

maintenance of location [inference]

lipid storage [inference]

cholesterol storage

cellular localization [inference]

intracellular transport [inference]

intracellular lipid transport [inference]

intracellular sterol transport

intracellular cholesterol transport

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of cellular metabolic process [inference]

regulation of isoprenoid metabolic process

regulation of primary metabolic process [inference]

regulation of lipid metabolic process [inference]

regulation of isoprenoid metabolic process

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of isoprenoid metabolic process

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
azurophil granule lumen	TAS
endoplasmic reticulum	IEA
extracellular space	IMP	15937921
extracellular region	TAS
extracellular exosome	HDA	23533145

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

vesicle lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

intracellular organelle lumen [inference]

vacuolar lumen [inference]

cytoplasmic vesicle lumen [inference]

secretory granule lumen [inference]

azurophil granule lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

endoplasmic reticulum

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

endoplasmic reticulum

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 4** entries
GO Term	Evidence Code	PMID
protein binding	IPI	19664597 20674861 22095670 27238017 27940359
cholesterol transfer activity	IDA	18772377 25339683 27238017
enzyme binding	IPI	15110773
cholesterol binding	IBA IDA	17018531 18772377 27238017

GO Hierarchy

molecular function

transporter activity [inference]

lipid transporter activity [inference]

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

enzyme 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.

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0070114	Niemann-Pick disease type C2	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:14504	Niemann-Pick disease	Alliance of Genome Resources