HUMAN:NPC1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	NPC1
Protein Name(s)	Niemann-Pick C1 protein
External Links
UniProt	O15118
EMBL	AF002020 AF157379 AF157365 AF157366 AF157367 AF157368 AF157369 AF157370 AF157371 AF157372 AF157373 AF157374 AF157375 AF157376 AF157377 AF157378 AF338230 AH009108 AK293779 AC010853 AC026634 BC063302
CCDS	CCDS11878.1
RefSeq	NP_000262.2
UniGene	Hs.464779 Hs.715623
PDB	3GKH 3GKI 3GKJ
PDBsum	3GKH 3GKI 3GKJ
ProteinModelPortal	O15118
SMR	O15118
BioGrid	110925
IntAct	O15118
STRING	9606.ENSP00000269228
BindingDB	O15118
ChEMBL	CHEMBL1293277
TCDB	2.A.6.6.1
PhosphoSite	O15118
MaxQB	O15118
PaxDb	O15118
PeptideAtlas	O15118
PRIDE	O15118
Ensembl	ENST00000269228
GeneID	4864
KEGG	hsa:4864
UCSC	uc002kum.4
CTD	4864
GeneCards	GC18M021111
GeneReviews	NPC1
H-InvDB	HIX0039703
HGNC	HGNC:7897
HPA	HPA026618
MIM	257220 607623
neXtProt	NX_O15118
Orphanet	216986 216981 216978 216975 216972
PharmGKB	PA31698
eggNOG	NOG149152
GeneTree	ENSGT00760000119174
HOVERGEN	HBG003913
InParanoid	O15118
KO	K12385
OMA	DNITETM
OrthoDB	EOG7QRQT0
PhylomeDB	O15118
TreeFam	TF300416
ChiTaRS	NPC1
EvolutionaryTrace	O15118
GeneWiki	NPC1
GenomeRNAi	4864
NextBio	18738
PRO	PR:O15118
Proteomes	UP000005640
Bgee	O15118
CleanEx	HS_NPC1
ExpressionAtlas	O15118
Genevestigator	O15118
GO	GO:0005783 GO:0005576 GO:0070062 GO:0005794 GO:0016021 GO:0005887 GO:0031902 GO:0005765 GO:0005764 GO:0016020 GO:0045121 GO:0005635 GO:0048471 GO:0015485 GO:0008158 GO:0004872 GO:0015248 GO:0004888 GO:0007628 GO:0006914 GO:0008206 GO:0071404 GO:0071383 GO:0033344 GO:0042632 GO:0008203 GO:0030301 GO:0006897 GO:0090150 GO:0007041 GO:0031579 GO:0060548 GO:0016242 GO:0006486 GO:0046686 GO:0042493 GO:0007165
InterPro	IPR004765 IPR003392 IPR000731
Pfam	PF02460
TIGRFAMs	TIGR00917
PROSITE	PS50156

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0046718	entry of virus into host cell	PMID:21866103^[1]	ECO:0000315			P		Fig. 4D	complete CACAO 1966
	GO:2000189	positive regulation of cholesterol homeostasis	PMID:9927649^[2]	ECO:0000315			P		Fig 1,2 and Table 1 shows NPC-1's role in correcting the over accumulation of choloesterol in lysosomes versus the defective mutant	complete CACAO 2094
	GO:0046718	entry of virus into host cell	PMID:21866101^[3]	ECO:0000315			P		Fig. 2B (infection) and 2C/2D (virus entry into cell)	complete CACAO 2104
involved_in	GO:0032367	intracellular cholesterol transport	PMID:27238017^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	PMID:9211849^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0032367	intracellular cholesterol transport	PMID:9211849^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046718	viral entry into host cell	PMID:21866103^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046718	viral entry into host cell	PMID:21866101^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	PMID:9927649^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:19946888^[6]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0090150	establishment of protein localization to membrane	PMID:23360953^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:19056867^[8]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001088)	Seeded From UniProt	complete
involved_in	GO:0031579	membrane raft organization	PMID:23360953^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:1905103	integral component of lysosomal membrane	PMID:9927649^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:1905103	integral component of lysosomal membrane	PMID:28784760^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0032367	intracellular cholesterol transport	PMID:28784760^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	PMID:28784760^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0033344	cholesterol efflux	PMID:16141411^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:12554680^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	PMID:12719428^[12]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7TMD4	P		Seeded From UniProt	complete
involved_in	GO:0030301	cholesterol transport	PMID:18772377^[13]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0015485	cholesterol binding	PMID:18772377^[13]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0008206	bile acid metabolic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7TMD4	P		Seeded From UniProt	complete
involved_in	GO:0007041	lysosomal transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q7TMD4	P		Seeded From UniProt	complete
involved_in	GO:0006486	protein glycosylation	PMID:10821832^[14]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:10821832^[14]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	PMID:12554680^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	PMID:17897319^[15]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O35604	C		Seeded From UniProt	complete
part_of	GO:0005635	nuclear envelope	PMID:12554680^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O35604	C		Seeded From UniProt	complete
involved_in	GO:0006914	autophagy	PMID:19074461^[16]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P10636	P		Seeded From UniProt	complete
involved_in	GO:0060548	negative regulation of cell death	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:G3V7K5 ensembl:ENSRNOP00000016167	P		Seeded From UniProt	complete
involved_in	GO:0046686	response to cadmium ion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:G3V7K5 ensembl:ENSRNOP00000016167	P		Seeded From UniProt	complete
involved_in	GO:0071404	cellular response to low-density lipoprotein particle stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
involved_in	GO:0071383	cellular response to steroid hormone stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
involved_in	GO:0046718	viral entry into host cell	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
part_of	GO:0045121	membrane raft	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	C		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
involved_in	GO:0042493	response to drug	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
involved_in	GO:0033344	cholesterol efflux	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
part_of	GO:0031982	vesicle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	C		Seeded From UniProt	complete
involved_in	GO:0016242	negative regulation of macroautophagy	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	C		Seeded From UniProt	complete
involved_in	GO:0007628	adult walking behavior	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
involved_in	GO:0006897	endocytosis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
involved_in	GO:0006486	protein glycosylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	C		Seeded From UniProt	complete
part_of	GO:0005768	endosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	C		Seeded From UniProt	complete
part_of	GO:0005635	nuclear envelope	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	C		Seeded From UniProt	complete
part_of	GO:0005576	extracellular region	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35604 ensembl:ENSMUSP00000025279	C		Seeded From UniProt	complete
enables	GO:0005319	lipid transporter activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR004765	F		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003392 InterPro:IPR004765	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	PMID:10521290^[17]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0015248	sterol transporter activity	PMID:9927649^[2]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:9927649^[2]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0004888	transmembrane signaling receptor activity	PMID:10521290^[17]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0038023	signaling receptor activity	PMID:9211849^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0034383	low-density lipoprotein particle clearance	Reactome:R-HSA-8964038	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	Reactome:R-HSA-8876485 Reactome:R-HSA-8876484	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
involved_in	GO:0006629	lipid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0443	P		Seeded From UniProt	complete
involved_in	GO:0016032	viral process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0945	P		Seeded From UniProt	complete
part_of	GO:0005768	endosome	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0967	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
involved_in	GO:0008203	cholesterol metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0153	P		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0458	C		Seeded From UniProt	complete
enables	GO:0001618	virus receptor activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1183	F		Seeded From UniProt	complete
involved_in	GO:0008202	steroid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0753	P		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0157	C		Seeded From UniProt	complete
part_of	GO:0031902	late endosome membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0151	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Carette, JE et al. (2011) Ebola virus entry requires the cholesterol transporter Niemann-Pick C1. Nature 477 340-3 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 Watari, H et al. (1999) Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization. Proc. Natl. Acad. Sci. U.S.A. 96 805-10 PubMed GONUTS page
↑ ^3.0 ^3.1 Côté, M et al. (2011) Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection. Nature 477 344-8 PubMed GONUTS page
↑ Gong, X et al. (2016) Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. Cell 165 1467-1478 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Carstea, ED et al. (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277 228-31 PubMed GONUTS page
↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
↑ ^7.0 ^7.1 Domon, MM et al. (2013) Interaction of AnxA6 with isolated and artificial lipid microdomains; importance of lipid composition and calcium content. Mol Biosyst 9 668-76 PubMed GONUTS page
↑ Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Li, X et al. (2017) 3.3 Å structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport. Proc. Natl. Acad. Sci. U.S.A. 114 9116-9121 PubMed GONUTS page
↑ Rigamonti, E et al. (2005) Liver X receptor activation controls intracellular cholesterol trafficking and esterification in human macrophages. Circ. Res. 97 682-9 PubMed GONUTS page
↑ ^11.0 ^11.1 ^11.2 Blom, TS et al. (2003) Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum. Mol. Genet. 12 257-72 PubMed GONUTS page
↑ Frolov, A et al. (2003) NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols. J. Biol. Chem. 278 25517-25 PubMed GONUTS page
↑ ^13.0 ^13.1 Infante, RE et al. (2008) NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes. Proc. Natl. Acad. Sci. U.S.A. 105 15287-92 PubMed GONUTS page
↑ ^14.0 ^14.1 Davies, JP & Ioannou, YA (2000) Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein. J. Biol. Chem. 275 24367-74 PubMed GONUTS page
↑ Schröder, B et al. (2007) Integral and associated lysosomal membrane proteins. Traffic 8 1676-86 PubMed GONUTS page
↑ Pacheco, CD et al. (2009) Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis. Hum. Mol. Genet. 18 956-65 PubMed GONUTS page
↑ ^17.0 ^17.1 Greer, WL et al. (1999) Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am. J. Hum. Genet. 65 1252-60 PubMed GONUTS page

[PMID:21866103-1] 1.0 ^1.1 Carette, JE et al. (2011) Ebola virus entry requires the cholesterol transporter Niemann-Pick C1. Nature 477 340-3 PubMed GONUTS page

[PMID:9927649-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 Watari, H et al. (1999) Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization. Proc. Natl. Acad. Sci. U.S.A. 96 805-10 PubMed GONUTS page

[PMID:21866101-3] 3.0 ^3.1 Côté, M et al. (2011) Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection. Nature 477 344-8 PubMed GONUTS page

[PMID:27238017-4] Gong, X et al. (2016) Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. Cell 165 1467-1478 PubMed GONUTS page

[PMID:9211849-5] 5.0 ^5.1 ^5.2 Carstea, ED et al. (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277 228-31 PubMed GONUTS page

[PMID:19946888-6] Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page

[PMID:23360953-7] 7.0 ^7.1 Domon, MM et al. (2013) Interaction of AnxA6 with isolated and artificial lipid microdomains; importance of lipid composition and calcium content. Mol Biosyst 9 668-76 PubMed GONUTS page

[PMID:19056867-8] Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page

[PMID:28784760-9] 9.0 ^9.1 ^9.2 Li, X et al. (2017) 3.3 Å structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport. Proc. Natl. Acad. Sci. U.S.A. 114 9116-9121 PubMed GONUTS page

[PMID:16141411-10] Rigamonti, E et al. (2005) Liver X receptor activation controls intracellular cholesterol trafficking and esterification in human macrophages. Circ. Res. 97 682-9 PubMed GONUTS page

[PMID:12554680-11] 11.0 ^11.1 ^11.2 Blom, TS et al. (2003) Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum. Mol. Genet. 12 257-72 PubMed GONUTS page

[PMID:12719428-12] Frolov, A et al. (2003) NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols. J. Biol. Chem. 278 25517-25 PubMed GONUTS page

[PMID:18772377-13] 13.0 ^13.1 Infante, RE et al. (2008) NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes. Proc. Natl. Acad. Sci. U.S.A. 105 15287-92 PubMed GONUTS page

[PMID:10821832-14] 14.0 ^14.1 Davies, JP & Ioannou, YA (2000) Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein. J. Biol. Chem. 275 24367-74 PubMed GONUTS page

[PMID:17897319-15] Schröder, B et al. (2007) Integral and associated lysosomal membrane proteins. Traffic 8 1676-86 PubMed GONUTS page

[PMID:19074461-16] Pacheco, CD et al. (2009) Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis. Hum. Mol. Genet. 18 956-65 PubMed GONUTS page

[PMID:10521290-17] 17.0 ^17.1 Greer, WL et al. (1999) Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Am. J. Hum. Genet. 65 1252-60 PubMed GONUTS page

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HUMAN:NPC1

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