Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4864
Gene name Gene Name - the full gene name approved by the HGNC.	NPC intracellular cholesterol transporter 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NPC1
Synonyms (NCBI Gene) Gene synonyms aliases	NPC, POGZ, SLC65A1
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1621962	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs7227375	G>A,C	Likely-benign, benign, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs28940897	T>G	Pathogenic	Coding sequence variant, missense variant
rs28942104	G>A	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28942105	T>A,C	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28942106	T>C	Pathogenic	Coding sequence variant, missense variant
rs28942107	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28942108	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs34084984	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs34226296	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, missense variant
rs55680026	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs55724504	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant
rs77289650	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs80358252	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80358253	T>G	Pathogenic	Coding sequence variant, missense variant
rs80358254	C>A,G,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80358257	G>C	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs80358258	C>T	Pathogenic	Coding sequence variant, missense variant
rs80358259	A>G	Pathogenic	Coding sequence variant, missense variant
rs113371321	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs120074130	C>T	Pathogenic	Missense variant, coding sequence variant
rs120074131	C>G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs120074132	C>T	Pathogenic	Missense variant, coding sequence variant
rs120074134	A>G	Pathogenic	Missense variant, coding sequence variant
rs120074135	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs120074136	A>G	Pathogenic	Missense variant, coding sequence variant
rs138184115	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs139751448	C>T	Pathogenic	Missense variant, coding sequence variant
rs141440861	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143124972	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs145101354	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145145840	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145227129	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs145362908	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147795644	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150334966	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150602021	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151125564	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Synonymous variant, coding sequence variant
rs182413311	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs200444084	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs369098773	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs369368181	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs371076898	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371160947	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372030650	T>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs372445155	G>A	Pathogenic	Missense variant, coding sequence variant
rs372947142	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs375307057	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376213990	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs377130051	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs377515417	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs398123284	->A	Pathogenic	Frameshift variant, coding sequence variant
rs483352879	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs483352880	->G	Pathogenic	Frameshift variant, coding sequence variant
rs483352881	->C	Pathogenic	Frameshift variant, coding sequence variant
rs483352882	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs483352883	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs483352884	->T	Pathogenic	Coding sequence variant, stop gained
rs483352885	T>A	Pathogenic	Missense variant, coding sequence variant
rs483352886	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs483352887	T>C	Pathogenic	Missense variant, coding sequence variant
rs483352888	A>G	Pathogenic	Missense variant, coding sequence variant
rs483352889	G>A	Pathogenic	Coding sequence variant, stop gained
rs483352890	C>G	Pathogenic	Missense variant, coding sequence variant
rs483352891	C>T	Pathogenic	Missense variant, coding sequence variant
rs483352892	G>C	Pathogenic	Intron variant
rs543206298	G>A	Pathogenic	Missense variant, coding sequence variant
rs550562774	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs746715353	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs748837410	C>T	Pathogenic	Coding sequence variant, missense variant
rs748862167	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs749012588	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs750095738	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs750292546	G>A,C,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs750323164	->AAGT	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs751249367	A>C,G	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs751951695	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs752409181	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs753419933	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs753768576	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756815030	CT>-	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs756853895	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, splice acceptor variant
rs757475924	C>A	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs758231839	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs758687942	ACAGAC>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs758829443	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs758902805	G>C,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs759075595	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs759826138	G>A	Pathogenic	Stop gained, coding sequence variant
rs761910746	->AA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs762124334	A>-,AA	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs764472245	A>C,T	Likely-pathogenic	Splice donor variant
rs764548800	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs765729815	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs768299417	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs768999208	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs770321568	C>G	Uncertain-significance, likely-pathogenic	Intron variant
rs770580241	TTTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771806960	C>A,T	Likely-pathogenic	Splice acceptor variant
rs772150994	->ACC,CAACC,CACC,CCACC,CCCGCC,CCGCC,CCTCC,CGCC,CTCC	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs772565983	C>T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant
rs772898831	A>G	Likely-pathogenic	Splice donor variant
rs773941375	->TC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs774333145	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs774943545	GAGT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs775629081	G>A	Pathogenic	Stop gained, coding sequence variant
rs775915490	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs777286835	G>A,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs777356809	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs778096289	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs778878523	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs780592540	G>A,C	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs781261962	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786200877	C>T	Likely-pathogenic	Splice donor variant
rs786200878	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs786200879	AAGT>-,AAGTAAGT	Pathogenic	Frameshift variant, coding sequence variant
rs786204455	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786204512	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs786204586	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786204641	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786204714	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794727897	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs863224902	->AATA	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs876661319	T>C	Pathogenic	Coding sequence variant, missense variant
rs886041356	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886042268	T>C	Pathogenic	Splice acceptor variant
rs886042270	C>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs886043131	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043744	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886043871	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044570	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs886044580	->TC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs917070773	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs1055204017	C>G,T	Pathogenic-likely-pathogenic	Intron variant
rs1057516260	G>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516462	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516603	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516647	TCCAAAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516749	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516813	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1057516950	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517005	T>C	Likely-pathogenic	Missense variant, initiator codon variant
rs1057517077	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517149	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517186	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517194	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517197	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517455	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517978	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057518613	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518711	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518942	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519229	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs1057519242	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793791	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1064794009	AG>-	Likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1064795718	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1131691558	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1160114136	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1169032037	G>A	Pathogenic	Missense variant, coding sequence variant
rs1243863645	TGA>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion
rs1261939149	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1298238512	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1338658857	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1555631571	C>A,G,T	Likely-pathogenic	Splice donor variant
rs1555631610	GAATATC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555631642	TA>C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555631653	C>G	Likely-pathogenic	Splice acceptor variant
rs1555631888	A>G	Likely-pathogenic	Splice donor variant
rs1555631957	TCAT>AAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555631982	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555631998	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555632182	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555632971	CC>AT	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1555632977	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555632994	T>G	Likely-pathogenic	Splice acceptor variant
rs1555633118	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1555633309	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555633326	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555633361	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555633454	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs1555633637	AACA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555634236	CTT>-	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1555634422	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555634508	C>T	Likely-pathogenic	Splice acceptor variant
rs1555634513	T>A	Likely-pathogenic	Splice acceptor variant
rs1555634618	->CCCCCG,CCCCG,CCCCT,CCCG,CCG,CG,CGCCG,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs1555634690	C>T	Likely-pathogenic	Splice donor variant
rs1555635957	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555636659	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1555637139	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555637164	CTGCTGGGGGCTGACCAGAGGTCAACTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555637232	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555637255	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555638409	C>A	Pathogenic	Splice donor variant
rs1555638833	A>G	Likely-pathogenic	Splice donor variant
rs1555641027	->GTAACTCTTTCACATTTGTTTT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555641037	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs1555642296	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555642347	T>A	Likely-pathogenic	Splice acceptor variant
rs1555645630	C>T	Likely-pathogenic	Initiator codon variant, missense variant
rs1567965488	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598942578	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1598954455	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1599011473	ACCTCTTGT>-	Likely-pathogenic	Coding sequence variant, inframe deletion

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004540	hsa-miR-33a-5p	Luciferase reporter assay	20466885
MIRT004540	hsa-miR-33a-5p	Luciferase reporter assay	20466885
MIRT004540	hsa-miR-33a-5p	Immunofluorescence, Luciferase reporter assay, Western blot	23547260
MIRT018683	hsa-miR-335-5p	Microarray	18185580
MIRT052499	hsa-let-7a-5p	CLASH	23622248
MIRT1190511	hsa-miR-1200	CLIP-seq
MIRT1190512	hsa-miR-200b	CLIP-seq
MIRT1190513	hsa-miR-200c	CLIP-seq
MIRT1190514	hsa-miR-2115	CLIP-seq
MIRT1190515	hsa-miR-27a	CLIP-seq
MIRT1190516	hsa-miR-27b	CLIP-seq
MIRT1190517	hsa-miR-3691-3p	CLIP-seq
MIRT1190518	hsa-miR-429	CLIP-seq
MIRT1190519	hsa-miR-4324	CLIP-seq
MIRT1190520	hsa-miR-4682	CLIP-seq
MIRT1190521	hsa-miR-513a-5p	CLIP-seq
MIRT1190522	hsa-miR-516a-3p	CLIP-seq
MIRT1190523	hsa-miR-544b	CLIP-seq
MIRT1190511	hsa-miR-1200	CLIP-seq
MIRT2055141	hsa-miR-1914	CLIP-seq
MIRT1190515	hsa-miR-27a	CLIP-seq
MIRT1190516	hsa-miR-27b	CLIP-seq
MIRT2055142	hsa-miR-3192	CLIP-seq
MIRT2055143	hsa-miR-3591-5p	CLIP-seq
MIRT2055144	hsa-miR-4327	CLIP-seq
MIRT2055145	hsa-miR-4434	CLIP-seq
MIRT2055146	hsa-miR-4505	CLIP-seq
MIRT2055147	hsa-miR-4516	CLIP-seq
MIRT2055148	hsa-miR-4709-3p	CLIP-seq
MIRT2055149	hsa-miR-485-5p	CLIP-seq
MIRT1190521	hsa-miR-513a-5p	CLIP-seq
MIRT2055150	hsa-miR-597	CLIP-seq
MIRT2284114	hsa-miR-4797-5p	CLIP-seq
MIRT2284115	hsa-miR-509-3p	CLIP-seq
MIRT2391687	hsa-miR-4265	CLIP-seq
MIRT2391688	hsa-miR-4296	CLIP-seq
MIRT2391689	hsa-miR-4322	CLIP-seq
MIRT2391690	hsa-miR-4648	CLIP-seq
MIRT2391691	hsa-miR-4654	CLIP-seq
MIRT2391692	hsa-miR-4769-5p	CLIP-seq
MIRT2391693	hsa-miR-548c-3p	CLIP-seq
MIRT2391694	hsa-miR-668	CLIP-seq
MIRT2439052	hsa-miR-148a	CLIP-seq
MIRT2439053	hsa-miR-148b	CLIP-seq
MIRT2439054	hsa-miR-152	CLIP-seq
MIRT2439055	hsa-miR-33a	CLIP-seq
MIRT2439056	hsa-miR-33b	CLIP-seq
MIRT2284114	hsa-miR-4797-5p	CLIP-seq
MIRT2284115	hsa-miR-509-3p	CLIP-seq
MIRT2439052	hsa-miR-148a	CLIP-seq
MIRT2439053	hsa-miR-148b	CLIP-seq
MIRT2439054	hsa-miR-152	CLIP-seq
MIRT2439055	hsa-miR-33a	CLIP-seq
MIRT2439056	hsa-miR-33b	CLIP-seq
MIRT2391687	hsa-miR-4265	CLIP-seq
MIRT2391688	hsa-miR-4296	CLIP-seq
MIRT2391689	hsa-miR-4322	CLIP-seq
MIRT2284115	hsa-miR-509-3p	CLIP-seq
MIRT2391693	hsa-miR-548c-3p	CLIP-seq
MIRT2686448	hsa-miR-103a	CLIP-seq
MIRT2686449	hsa-miR-107	CLIP-seq
MIRT2686450	hsa-miR-3065-3p	CLIP-seq
MIRT2686451	hsa-miR-767-5p	CLIP-seq

Show/Hide all(82)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0001889	Process	Liver development	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	10521290
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	16757520, 19583955, 20674861, 25285302, 26771495, 27238017, 28336668, 34450201, 34799735
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005635	Component	Nuclear envelope	IDA	12554680
GO:0005635	Component	Nuclear envelope	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005764	Component	Lysosome	TAS	9927649
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	9927649, 28784760
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	IMP	27378690
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	12554680
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10821832
GO:0005886	Component	Plasma membrane	IEA
GO:0006486	Process	Protein glycosylation	IDA	10821832
GO:0006486	Process	Protein glycosylation	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006914	Process	Autophagy	IGI	19074461
GO:0007041	Process	Lysosomal transport	ISS
GO:0007628	Process	Adult walking behavior	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008206	Process	Bile acid metabolic process	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010878	Process	Cholesterol storage	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	18772377
GO:0015485	Function	Cholesterol binding	IEA
GO:0015918	Process	Sterol transport	IBA
GO:0015918	Process	Sterol transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10521290
GO:0016125	Process	Sterol metabolic process	IEA
GO:0016236	Process	Macroautophagy	IEA
GO:0016242	Process	Negative regulation of macroautophagy	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030299	Process	Intestinal cholesterol absorption	IBA
GO:0030301	Process	Cholesterol transport	IDA	18772377
GO:0030301	Process	Cholesterol transport	IEA
GO:0030301	Process	Cholesterol transport	IEA
GO:0031579	Process	Membrane raft organization	IMP	23360953
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IMP	27378690
GO:0031982	Component	Vesicle	IEA
GO:0032365	Process	Intracellular lipid transport	IMP	27378690
GO:0032367	Process	Intracellular cholesterol transport	IMP	9211849, 27238017, 27378690, 28784760
GO:0033344	Process	Cholesterol efflux	IDA	16141411
GO:0033344	Process	Cholesterol efflux	IEA
GO:0038023	Function	Signaling receptor activity	TAS	9211849
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IDA	12719428
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	9211849, 9927649, 28784760
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0045121	Component	Membrane raft	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0046718	Process	Symbiont entry into host cell	IMP	21866101, 21866103
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12554680
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071383	Process	Cellular response to steroid hormone stimulus	IEA
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	IEA
GO:0090150	Process	Establishment of protein localization to membrane	IDA	23360953
GO:0120020	Function	Cholesterol transfer activity	IMP	9927649
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	28336668
GO:2000900	Process	Cyclodextrin metabolic process	IEA

MIM	HGNC	e!Ensembl
607623	7897	ENSG00000141458

Protein

UniProt ID

O15118

Protein name

NPC intracellular cholesterol transporter 1 (Niemann-Pick C1 protein)

Protein function

Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:10821832, PubMed:12554680, PubMed:18772377, PubMed:27238017, PubMed:9

PDB

3GKH , 3GKI , 3GKJ , 3JD8 , 5F18 , 5F1B , 5HNS , 5JNX , 5KWY , 5U73 , 5U74 , 6UOX , 6W5R , 6W5S , 6W5T , 6W5U , 6W5V , 8EUS , 9DZ2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16414	NPC1_N	22 → 267	Niemann-Pick C1 N terminus	Domain
PF12349	Sterol-sensing	649 → 803	Sterol-sensing domain of SREBP cleavage-activation	Family
PF02460	Patched	1027 → 1253	Patched family	Family

Sequence

MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQ
ELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQF
LNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKD
ADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSC
QDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVS
EYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVF
ITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIY
QPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCT
ILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGP
VFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLT
ISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAG
ILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETL
DQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFV
SLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIA
IFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYT
SSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVD
NITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYS
SAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFP
YSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFG
VMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFS
GITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKS
CATEERYKGTERERLLNF

Sequence length

1278

Interactions

View interactions

	KEGG		Reactome
	Virion - Ebolavirus, Lyssavirus and Morbillivirus Lysosome Cholesterol metabolism		LDL clearance

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Niemann-Pick Disease	niemann-pick disease, type c, Niemann-Pick disease, type C1, juvenile form, Niemann-Pick disease, type C1, adult form	rs483352888, rs773941375, rs80358257, rs369368181, rs768299417, rs759826138, rs762124334, rs80358258, rs80358259, rs377130051, rs758902805, rs746715353, rs28942108, rs774943545, rs28942105 View all (42 more)	N/A
Sphingomyelinase deficiency	niemann-pick disease, type c1	rs1057517005, rs2058616798, rs777286835, rs1555641027, rs759826138, rs771806960, rs1555638833, rs1555631957, rs80358252, rs1057518711, rs1555632994, rs550562774, rs28940897, rs762124334, rs786204641 View all (153 more)	N/A
Dystonia	Dystonic disorder	rs113371321, rs1057518942	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
capillary hemangioma	Capillary hemangioma	N/A	N/A	ClinVar
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes, Triglyceride levels in non-type 2 diabetes, Type 2 diabetes (PheCode 250.2)	N/A	N/A	GWAS
Heart Failure	Heart failure	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Obesity	Obesity	N/A	N/A	GWAS

Show/Hide Text Mining Associations (78)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	28640357
Alzheimer Disease	Associate	17183645, 20571217, 31902793
Apraxias	Associate	32921771
Ataxia	Associate	27900365, 32921771, 34535129, 34830064
Breast Neoplasms	Associate	37420029
Burkitt Lymphoma	Associate	22590638
Calcinosis	Associate	16556867
Carcinoma Hepatocellular	Associate	35592684, 38042211
Cataplexy	Associate	30737051
Cerebellar Ataxia	Associate	35192242
Cerebellar Diseases	Associate	27599728, 34535129
Cerebrovascular Disorders	Associate	39706535
Cholestasis	Associate	28550066
Cognition Disorders	Associate	34535129
Colonic Diseases	Associate	27449137
Communicable Diseases	Associate	35850050
Coronary Artery Disease	Associate	17458880
Coronary Disease	Associate	20955564, 26890452
Crohn Disease	Associate	35741735
Death	Associate	30183109
Deglutition Disorders	Associate	27900365, 34830064
Dementia	Associate	27549128, 27900365
Demyelinating Diseases	Associate	20554533
Diabetes Gestational	Inhibit	39746811
Diabetes Mellitus Type 2	Associate	23153210
Disease	Associate	11333381
Dykes Markes Harper syndrome	Associate	34830064
Dysarthria	Associate	34830064
Dystonia	Associate	28830896
Eye Abnormalities	Associate	37433892
Gallstones	Associate	15810076
Genetic Diseases Inborn	Associate	30183109
Gliosis	Associate	31902793
Hemorrhagic Fever Ebola	Associate	27238017
Heredodegenerative Disorders Nervous System	Associate	10521297
Hydrops Fetalis	Associate	27549128
Hyperlipoproteinemia Type II	Associate	36648309
Infant Newborn Diseases	Associate	28550066, 34697279
Infections	Associate	33947371
Insulin Resistance	Associate	20521171
Intestinal Pseudo Obstruction	Associate	32931663
Jaundice	Associate	24915861
Jaundice Obstructive	Associate	34535129
Liver Failure	Associate	28550066, 37433892
Lung Diseases	Associate	33938663
Lung Neoplasms	Associate	35082790
Lysosomal Storage Diseases	Associate	25479233, 37423302, 39518914, 39596250
Melanoma	Associate	37423302
Movement Disorders	Associate	24915861
Muscle Spasticity	Associate	27900365
Narcolepsy	Associate	30119649
Nasopharyngeal Carcinoma	Associate	22590638
Neoplasms	Associate	27449137, 35850050, 37420029, 38042211
Neoplasms	Inhibit	35850050
Nervous System Diseases	Associate	32204338
Neurodegenerative Diseases	Associate	20554533, 26890452, 30183109, 32880929
Neurologic Manifestations	Associate	28550066, 30737051, 32921771, 34830064
Neuronal Ceroid Lipofuscinoses	Associate	37245481
Niemann Pick Disease Type A	Associate	27599728
Niemann Pick Disease Type C	Associate	10521297, 11333381, 11349231, 11567215, 12401890, 12606053, 12719428, 15774455, 16138904, 16778374, 17183645, 19474101, 20521171, 21436030, 22505584 View all (77 more)
Niemann Pick Disease Type C	Inhibit	34830064
Niemann Pick Diseases	Associate	10662671, 9634529
Obesity	Associate	20843981, 23153210, 23375129, 23950976, 33139814
Ovarian Neoplasms	Associate	37420029
Pancreatic Neoplasms	Associate	27449137
Parkinson Disease	Associate	24035292
Parkinson Disease Secondary	Associate	24035292
Pigmentation Disorders	Associate	37423302
Pneumonia Aspiration	Associate	27900365
Polycystic Ovary Syndrome	Associate	37445796
Pyruvate Carboxylase Deficiency Disease	Associate	35159129
Schizophrenia	Associate	30119649, 34830064
Skin Manifestations	Associate	34535129
Sleep Deprivation	Associate	22437840
Speech Disorders	Associate	32921771
Supranuclear Palsy Progressive	Associate	27366019, 30737051, 34535129, 34830064, 35842134, 37433892
Tangier Disease	Associate	14747463
Wells syndrome	Associate	34830064

NPC1 (NPC intracellular cholesterol transporter 1)