Entity Details

Primary name NPC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15118
EntryNameNPC1_HUMAN
FullNameNPC intracellular cholesterol transporter 1
TaxID9606
Evidenceevidence at protein level
Length1278
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesNPC1

GO terms

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GOName
GO:0001618 virus receptor activity
GO:0004888 transmembrane signaling receptor activity
GO:0005576 extracellular region
GO:0005635 nuclear envelope
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005887 integral component of plasma membrane
GO:0006486 protein glycosylation
GO:0006897 endocytosis
GO:0006914 autophagy
GO:0007041 lysosomal transport
GO:0007628 adult walking behavior
GO:0008203 cholesterol metabolic process
GO:0008206 bile acid metabolic process
GO:0010467 gene expression
GO:0015248 sterol transporter activity
GO:0015485 cholesterol binding
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016242 negative regulation of macroautophagy
GO:0030301 cholesterol transport
GO:0031579 membrane raft organization
GO:0031902 late endosome membrane
GO:0032367 intracellular cholesterol transport
GO:0033344 cholesterol efflux
GO:0034383 low-density lipoprotein particle clearance
GO:0038023 signaling receptor activity
GO:0042493 response to drug
GO:0042632 cholesterol homeostasis
GO:0045121 membrane raft
GO:0046686 response to cadmium ion
GO:0046718 viral entry into host cell
GO:0048471 perinuclear region of cytoplasm
GO:0060548 negative regulation of cell death
GO:0070062 extracellular exosome
GO:0071383 cellular response to steroid hormone stimulus
GO:0071404 cellular response to low-density lipoprotein particle stimulus
GO:0090150 establishment of protein localization to membrane
GO:1905103 integral component of lysosomal membrane

Subcellular Location

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Subcellular Location
Late endosome membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR000731 Sterol-sensing domainDomainDomain
IPR003392 Protein patched/dispatchedFamilyFamily
IPR004765 NPC1-likeFamilyFamily
IPR032190 Niemann-Pick C1, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
257220 OMIMNiemann-Pick disease C1 (NPC1)A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. The disease is caused by variants affecting the gene represented in this entry.