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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	29881
Gene name Gene Name - the full gene name approved by the HGNC.	NPC1 like intracellular cholesterol transporter 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NPC1L1
Synonyms (NCBI Gene) Gene synonyms aliases	LDLCQ7, NPC11L1, SLC65A2
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p13
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi netw

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SNP ID	Visualize variation	Clinical significance	Consequence
rs52815063	A>T	Likely-benign, drug-response	Missense variant, genic downstream transcript variant, coding sequence variant
rs119457968	C>A,G,T	Drug-response	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant

Show/Hide all(48)

miRTarBase ID	miRNA	Experiments
MIRT1190524	hsa-miR-3612	CLIP-seq
MIRT1190525	hsa-miR-4459	CLIP-seq
MIRT1190526	hsa-miR-4695-5p	CLIP-seq
MIRT1190527	hsa-miR-650	CLIP-seq
MIRT1190528	hsa-miR-665	CLIP-seq
MIRT1190529	hsa-miR-765	CLIP-seq
MIRT1190530	hsa-miR-3074-5p	CLIP-seq
MIRT1190531	hsa-miR-3135	CLIP-seq
MIRT1190532	hsa-miR-3164	CLIP-seq
MIRT1190533	hsa-miR-3180-5p	CLIP-seq
MIRT1190524	hsa-miR-3612	CLIP-seq
MIRT1190534	hsa-miR-3922-5p	CLIP-seq
MIRT1190525	hsa-miR-4459	CLIP-seq
MIRT1190526	hsa-miR-4695-5p	CLIP-seq
MIRT1190535	hsa-miR-4722-3p	CLIP-seq
MIRT1190536	hsa-miR-520a-5p	CLIP-seq
MIRT1190537	hsa-miR-525-5p	CLIP-seq
MIRT1190527	hsa-miR-650	CLIP-seq
MIRT1190528	hsa-miR-665	CLIP-seq
MIRT1190529	hsa-miR-765	CLIP-seq
MIRT2055151	hsa-miR-1302	CLIP-seq
MIRT2055152	hsa-miR-1304	CLIP-seq
MIRT2055153	hsa-miR-3174	CLIP-seq
MIRT2055154	hsa-miR-3659	CLIP-seq
MIRT2055155	hsa-miR-4298	CLIP-seq
MIRT2055156	hsa-miR-450b-3p	CLIP-seq
MIRT2055157	hsa-miR-4648	CLIP-seq
MIRT2055158	hsa-miR-4654	CLIP-seq
MIRT2055159	hsa-miR-4658	CLIP-seq
MIRT2055160	hsa-miR-4713-3p	CLIP-seq
MIRT2055161	hsa-miR-4765	CLIP-seq
MIRT2055162	hsa-miR-4769-5p	CLIP-seq
MIRT2055163	hsa-miR-4802-3p	CLIP-seq
MIRT2055164	hsa-miR-574-5p	CLIP-seq
MIRT2055165	hsa-miR-638	CLIP-seq
MIRT2055166	hsa-miR-661	CLIP-seq
MIRT2055167	hsa-miR-769-3p	CLIP-seq
MIRT2055151	hsa-miR-1302	CLIP-seq
MIRT2055153	hsa-miR-3174	CLIP-seq
MIRT2055154	hsa-miR-3659	CLIP-seq
MIRT2055155	hsa-miR-4298	CLIP-seq
MIRT2055157	hsa-miR-4648	CLIP-seq
MIRT2055158	hsa-miR-4654	CLIP-seq
MIRT2055159	hsa-miR-4658	CLIP-seq
MIRT2055161	hsa-miR-4765	CLIP-seq
MIRT2055162	hsa-miR-4769-5p	CLIP-seq
MIRT2055163	hsa-miR-4802-3p	CLIP-seq
MIRT2055164	hsa-miR-574-5p	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
HNF4A	Activation	21123766
SREBF2	Activation	21123766
SREBF2	Unknown	20460578;21527728

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19542231, 22095670, 29880681
GO:0005886	Component	Plasma membrane	TAS
GO:0006695	Process	Cholesterol biosynthetic process	IMP	17140581
GO:0008144	Function	Drug binding	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030299	Process	Intestinal cholesterol absorption	IMP	17140581
GO:0030301	Process	Cholesterol transport	IMP	17140581
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031267	Function	Small GTPase binding	IPI	19542231
GO:0031489	Function	Myosin V binding	IPI	19542231
GO:0031526	Component	Brush border membrane	IEA
GO:0042157	Process	Lipoprotein metabolic process	IMP	17140581
GO:0042493	Process	Response to drug	IEA
GO:0044214	Component	Spanning component of plasma membrane	IDA	19325169
GO:0071501	Process	Cellular response to sterol depletion	IDA	19325169
GO:0098856	Process	Intestinal lipid absorption	TAS

MIM	HGNC	e!Ensembl
608010	7898	ENSG00000015520

Protein

UniProt ID

Q9UHC9

Protein name

NPC1-like intracellular cholesterol transporter 1 (NPC1L1) (Niemann-Pick C1-like protein 1)

Protein function

Plays a major role in cholesterol homeostasis (PubMed:22095670). Critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte (PubMed:22095670). Involved in plant sterol absorption, it transports sitosterol, alt

PDB

3QNT , 7DF8 , 7DFW , 7DFZ , 7N4U , 7N4V , 7N4X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16414	NPC1_N	30 → 283	Niemann-Pick C1 N terminus	Domain
PF12349	Sterol-sensing	661 → 815	Sterol-sensing domain of SREBP cleavage-activation	Family
PF02460	Patched	1087 → 1294	Patched family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle. {ECO:0000269|PubMed:10783261, ECO:0000269|PubMed:14976318, ECO:0

Sequence

MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPELSGSLMTLSNVSCLSN
TPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEASLSITKALLTRCPACSDNF
VNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFYQHSFAEQSYDSCSRVRVPAA
ATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDITFHLLEPGQAVGSGIQPLNEGV
ARCNESQGDDVATCSCQDCAASCPAIARPQALDSTFYLGQMPGSLVLIIILCSVFAVVTI
LLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTHTLLGQFFQGWGTWVASWPLTILVLSV
IPVVALAAGLVFTELTTDPVELWSAPNSQARSEKAFHDQHFGPFFRTNQVILTAPNRSSY
RYDSLLLGPKNFSGILDLDLLLELLELQERLRHLQVWSPEAQRNISLQDICYAPLNPDNT
SLYDCCINSLLQYFQNNRTLLLLTANQTLMGQTSQVDWKDHFLYCANAPLTFKDGTALAL
SCMADYGAPVFPFLAIGGYKGKDYSEAEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEM
RAFQRRMAGMFQVTFMAERSLEDEINRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRV
MVDSKATLGLGGVAVVLGAVMAAMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLE
YQRLPRRPGEPREVHIGRALGRVAPSMLLCSLSEAICFFLGALTPMPAVRTFALTSGLAV
ILDFLLQMSAFVALLSLDSKRQEASRLDVCCCVKPQELPPPGQGEGLLLGFFQKAYAPFL
LHWITRGVVLLLFLALFGVSLYSMCHISVGLDQELALPKDSYLLDYFLFLNRYFEVGAPV
YFVTTLGYNFSSEAGMNAICSSAGCNNFSFTQKIQYATEFPEQSYLAIPASSWVDDFIDW
LTPSSCCRLYISGPNKDKFCPSTVNSLNCLKNCMSITMGSVRPSVEQFHKYLPWFLNDRP
NIKCPKGGLAAYSTSVNLTSDGQVLDTVAILSPRLEYSGTISAHCNLYLLDSTSRFMAYH
KPLKNSQDYTEALRAARELAANITADLRKVPGTDPAFEVFPYTITNVFYEQYLTILPEGL
FMLSLCLVPTFAVSCLLLGLDLRSGLLNLLSIVMILVDTVGFMALWGISYNAVSLINLVS
AVGMSVEFVSHITRSFAISTKPTWLERAKEATISMGSAVFAGVAMTNLPGILVLGLAKAQ
LIQIFFFRLNLLITLLGLLHGLVFLPVILSYVGPDVNPALALEQKRAEEAVAAVMVASCP
NHPSRVSTADNIYVNHSFEGSIKGAGAISNFLPNNGRQF

Sequence length

1359

Interactions

View interactions

	KEGG		Reactome
	Fat digestion and absorption		Intestinal lipid absorption

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Hypobetalipoproteinemia	NON RARE IN EUROPE: Familial hypobetalipoproteinemia	rs281865425, rs397514255, rs121918383, rs121918384, rs121918385, rs121918386, rs387906569, rs397514256, rs121918387, rs121918389, rs121918390, rs587776852, rs1572800245, rs606231236, rs797045253 View all (9 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Schizophrenia	Schizophrenia			GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
Achalasia Addisonianism Alacrimia syndrome	Associate	37355634, 38233830
Cholelithiasis	Associate	26800364, 29764733, 32366946
Colorectal Neoplasms	Stimulate	34511128
Coronary Artery Disease	Associate	26946290, 38233830
Coronary Disease	Associate	19752398, 25390462, 25770315, 26890452, 30789754, 34675202, 39358768
Coronary Vessel Anomalies	Associate	38233830
Diabetes Mellitus Type 2	Associate	31311377
Diabetes Mellitus Type 2	Stimulate	40004948
Diabetic Neuropathies	Associate	40225015
Diabetic Retinopathy	Stimulate	40225015
Gallstones	Inhibit	20144195
Gallstones	Associate	26800364, 29764733
Heart Diseases	Associate	19752398
Hepatitis C	Associate	27769799
Hypercholesterolemia	Associate	36234807
Intervertebral Disc Degeneration	Associate	39358768
Low Back Pain	Associate	39358768
Niemann Pick Disease Type C	Associate	26890452
Non alcoholic Fatty Liver Disease	Associate	29466845
Sciatica	Associate	39358768

NPC1L1 (NPC1 like intracellular cholesterol transporter 1)