NPC1L1 (NPC1 like intracellular cholesterol transporter 1) - Rat Genome Database

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Gene: NPC1L1 (NPC1 like intracellular cholesterol transporter 1) Homo sapiens
Analyze
Symbol: NPC1L1
Name: NPC1 like intracellular cholesterol transporter 1
RGD ID: 1345181
HGNC Page HGNC:7898
Description: Enables several functions, including cholesterol binding activity; myosin V binding activity; and protein homodimerization activity. Involved in several processes, including cellular response to sterol depletion; intestinal cholesterol absorption; and vitamin E metabolic process. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LDLCQ7; Niemann-Pick C1-like protein 1; NPC1 (Niemann-Pick disease, type C1, gene)-like 1; NPC1 like 1; NPC1-like 1; NPC1-like intracellular cholesterol transporter 1; NPC11L1; SLC65A2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38744,512,535 - 44,541,330 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,512,535 - 44,541,330 (-)EnsemblGRCh38hg38GRCh38
GRCh37744,552,134 - 44,580,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,518,659 - 44,547,439 (-)NCBINCBI36Build 36hg18NCBI36
Build 34744,325,376 - 44,354,154NCBI
Celera744,651,139 - 44,679,899 (-)NCBICelera
Cytogenetic Map7p13NCBI
HuRef744,436,243 - 44,465,023 (-)NCBIHuRef
CHM1_1744,556,489 - 44,585,261 (-)NCBICHM1_1
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
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Notes
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Original Reference(s)
NPC1L1Humanarteriosclerosis  ISORGD:16156591642183 RGD 
NPC1L1HumanExperimental Diabetes Mellitus  ISORGD:13031351642185mRNA:increased expression:intestine, liverRGD 
NPC1L1HumanHypercholesterolemia  ISORGD:16156591642184 RGD 
Object Symbol
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Term
Qualifier
Evidence
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Reference
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Source
Original Reference(s)
NPC1L1Humanpleomorphic xanthoastrocytoma  IAGPRGD:128590218554872ClinVar Annotator: match by term: Pleomorphic xanthoastrocytomaClinVarPMID:28299358

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Object Symbol
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Original Reference(s)
NPC1L1Human1,2,3-trilinolenoylglycerol decreases expressionISORGD:16156596480464trilinolenin results in decreased expression of NPC1L1 mRNACTDPMID:18356535
NPC1L1Human1,2,3-trilinoleoylglycerol decreases expressionISORGD:16156596480464trilinolein results in decreased expression of NPC1L1 mRNACTDPMID:18356535
NPC1L1Human1-naphthyl isothiocyanate multiple interactionsISORGD:1615659648046418alpha-glycyrrhetinic acid inhibits the reaction [1-Naphthylisothiocyanate results in increased expression of NPC1L1 mRNA]; Glycyrrhizic Acid more ...CTDPMID:28549656
NPC1L1Human1-naphthyl isothiocyanate increases expressionISORGD:161565964804641-Naphthylisothiocyanate results in increased expression of NPC1L1 mRNACTDPMID:28549656
NPC1L1Human17beta-estradiol increases expressionISORGD:16156596480464Estradiol results in increased expression of NPC1L1 proteinCTDPMID:39298647
NPC1L1Human17beta-estradiol affects expressionISORGD:16156596480464Estradiol affects the expression of NPC1L1 mRNACTDPMID:39298647
NPC1L1Human2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsISORGD:16156596480464[Dietary Sucrose co-treated with Dietary Fats co-treated with bisphenol A co-treated with Diethylhexyl Phthalate co-treated more ...CTDPMID:30722647
NPC1L1Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:16156596480464Tetrachlorodibenzodioxin affects the expression of NPC1L1 mRNACTDPMID:26377647
NPC1L1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISORGD:13031356480464Tetrachlorodibenzodioxin results in increased expression of NPC1L1 mRNACTDPMID:33387578
NPC1L1Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISORGD:16156596480464[Dietary Sucrose co-treated with Dietary Fats co-treated with bisphenol A co-treated with Diethylhexyl Phthalate co-treated more ...CTDPMID:30722647
NPC1L1Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISORGD:16156596480464Tetrachlorodibenzodioxin results in decreased expression of NPC1L1 mRNACTDPMID:28213091|PMID:28238261
NPC1L1Human3,4-methylenedioxymethamphetamine decreases expressionISORGD:16156596480464N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of NPC1L1 mRNACTDPMID:20188158
NPC1L1Human4,4'-sulfonyldiphenol decreases expressionISORGD:16156596480464bisphenol S results in decreased expression of NPC1L1 mRNA; bisphenol S results in decreased expression more ...CTDPMID:39298647
NPC1L1Human7-ketocholesterol decreases expressionEXP 64804647-ketocholesterol results in decreased expression of NPC1L1CTDPMID:23454145
NPC1L1Humanaflatoxin B1 increases expressionEXP 6480464Aflatoxin B1 results in increased expression of NPC1L1 mRNACTDPMID:22100608
NPC1L1Humanaflatoxin B1 decreases methylationEXP 6480464Aflatoxin B1 results in decreased methylation of NPC1L1 geneCTDPMID:27153756
NPC1L1Humanaristolochic acid A increases expressionEXP 6480464aristolochic acid I results in increased expression of NPC1L1 mRNACTDPMID:33212167
NPC1L1Humanaztreonam decreases expressionISORGD:16156596480464Aztreonam results in decreased expression of NPC1L1 mRNACTDPMID:24657338
NPC1L1Humanbenzo[a]pyrene increases mutagenesisEXP 6480464Benzo(a)pyrene results in increased mutagenesis of NPC1L1 geneCTDPMID:25435355
NPC1L1Humanbeta-lapachone increases expressionEXP 6480464beta-lapachone results in increased expression of NPC1L1 mRNACTDPMID:38218311

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Biological Process
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Original Reference(s)
NPC1L1Humancellular response to sterol depletion involved_inIDA 150520179 PMID:19325169UniProtPMID:19325169
NPC1L1Humancholesterol biosynthetic process involved_inIMP 150520179 PMID:17140581HGNC-UCLPMID:17140581
NPC1L1Humancholesterol homeostasis involved_inIBAMGI:1097712|MGI:2685089|PANTHER:PTN000083973|UniProtKB:O15118|WB:WBGene00003561|WB:WBGene00003562|ZFIN:ZDB-GENE-030131-3161150520179 GO_CentralGO_REF:0000033
NPC1L1Humancholesterol homeostasis acts_upstream_of_or_withinISOMGI:30437849068941 PMID:14976318MGIPMID:14976318
NPC1L1Humancholesterol import involved_inIEAUniProtKB:Q6T3U3|ensembl:ENSRNOP00000065524150520179 EnsemblGO_REF:0000107
NPC1L1Humancholesterol metabolic process involved_inIEAUniProtKB-KW:KW-0153150520179 UniProtGO_REF:0000043
NPC1L1Humancholesterol transport involved_inIMP 150520179 PMID:17140581, PMID:24336247UniProtPMID:17140581|PMID:24336247
NPC1L1Humancholesterol transport involved_inIEAARBA:ARBA00034167150520179 UniProtGO_REF:0000117
NPC1L1Humanintestinal cholesterol absorption involved_inIMP 150520179 PMID:17140581HGNC-UCLPMID:17140581
NPC1L1Humanintestinal cholesterol absorption involved_inIBAFB:FBgn0261675|MGI:2685089|PANTHER:PTN000083973|UniProtKB:Q9UHC9150520179 GO_CentralGO_REF:0000033
NPC1L1Humanlipid metabolic process involved_inIEAUniProtKB-KW:KW-0443150520179 UniProtGO_REF:0000043
NPC1L1Humanlipoprotein metabolic process involved_inIMP 150520179 PMID:17140581HGNC-UCLPMID:17140581
NPC1L1Humanresponse to muscle activity  ISORGD:13031359068941 RGDPMID:23117815|REF_RGD_ID:15045604
NPC1L1Humanresponse to muscle activity involved_inIEAUniProtKB:Q6T3U3|ensembl:ENSRNOP00000065524150520179 EnsemblGO_REF:0000107
NPC1L1Humanresponse to xenobiotic stimulus  ISORGD:13031359068941 RGDPMID:17109865|REF_RGD_ID:1598661
NPC1L1Humanresponse to xenobiotic stimulus involved_inIEAUniProtKB:Q6T3U3|ensembl:ENSRNOP00000065524150520179 EnsemblGO_REF:0000107
NPC1L1Humansteroid metabolic process involved_inIEAUniProtKB-KW:KW-0753150520179 UniProtGO_REF:0000043
NPC1L1Humansterol transport involved_inIBAFB:FBgn0024320|MGI:1097712|MGI:2685089|PANTHER:PTN000847349|RGD:1303135|SGD:S000005927|UniProtKB:O15118|UniProtKB:Q9UHC9|WB:WBGene00003561|WB:WBGene00003562|ZFIN:ZDB-GENE-030131-3161150520179 GO_CentralGO_REF:0000033
NPC1L1Humanvitamin E metabolic process involved_inIDA 150520179 PMID:28315682UniProtPMID:28315682
NPC1L1Humanvitamin transport involved_inIEAUniProtKB:Q6T3U3|ensembl:ENSRNOP00000065524150520179 EnsemblGO_REF:0000107
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Cellular Component
1 to 15 of 15 rows

  
Object Symbol
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Reference
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Original Reference(s)
NPC1L1Humanapical plasma membrane located_inIEAUniProtKB:Q6T3U3|ensembl:ENSRNOP00000065524150520179 EnsemblGO_REF:0000107
NPC1L1Humanapical plasma membrane located_inIEAUniProtKB-SubCell:SL-0015150520179 UniProtGO_REF:0000044
NPC1L1Humanbrush border membrane  ISORGD:13031359068941 RGDPMID:15777641|REF_RGD_ID:1642189
NPC1L1Humanbrush border membrane located_inIEAUniProtKB:Q6T3U3|ensembl:ENSRNOP00000065524150520179 EnsemblGO_REF:0000107
NPC1L1Humancytoplasmic vesicle located_inIEAUniProtKB-KW:KW-0968150520179 UniProtGO_REF:0000043
NPC1L1Humancytoplasmic vesicle membrane located_inIEAUniProtKB-SubCell:SL-0089150520179 UniProtGO_REF:0000044
NPC1L1Humanendomembrane system located_inIEAUniProtKB-SubCell:SL-0147150520179 UniProtGO_REF:0000044
NPC1L1Humanmembrane located_inIEAUniProtKB-SubCell:SL-0162150520179 UniProtGO_REF:0000044
NPC1L1Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
NPC1L1Humanmembrane located_inIEAInterPro:IPR004765150520179 InterProGO_REF:0000002
NPC1L1Humanplasma membrane located_inTAS 150520179 ReactomeReactome:R-HSA-265456
NPC1L1Humanplasma membrane is_active_inIBAMGI:1097712|PANTHER:PTN000083973|RGD:1303135|UniProtKB:O15118|UniProtKB:Q9UHC9150520179 GO_CentralGO_REF:0000033
NPC1L1Humanplasma membrane located_inIEAUniProtKB-KW:KW-1003150520179 UniProtGO_REF:0000043
NPC1L1Humanplasma membrane located_inIEAUniProtKB-SubCell:SL-0039150520179 UniProtGO_REF:0000044
NPC1L1Humanplasma membrane located_inIDA 150520179 PMID:19325169, PMID:24336247UniProtPMID:19325169|PMID:24336247
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Molecular Function
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Original Reference(s)
NPC1L1Humancholesterol binding enablesIDA 150520179 PMID:21602275, PMID:34407950UniProtPMID:21602275|PMID:34407950
NPC1L1Humancholesterol binding enablesIBAPANTHER:PTN000083973|UniProtKB:O15118|UniProtKB:Q9UHC9150520179 GO_CentralGO_REF:0000033
NPC1L1Humanheterocyclic compound binding  ISOCHEBI:490409068941 RGDPMID:15928087|REF_RGD_ID:1642188
NPC1L1Humanheterocyclic compound binding enablesIEAUniProtKB:Q6T3U3|ensembl:ENSRNOP00000065524150520179 EnsemblGO_REF:0000107
NPC1L1Humanlipid transporter activity enablesIEAInterPro:IPR004765150520179 InterProGO_REF:0000002
NPC1L1Humanmyosin V binding enablesIPIUniProtKB:Q9ULV0150520179 PMID:19542231UniProtPMID:19542231
NPC1L1Humanprotein binding enablesIPIUniProtKB:P49757150520179 PMID:24336247UniProtPMID:24336247
NPC1L1Humanprotein binding enablesIPIUniProtKB:P61916150520179 PMID:22095670UniProtPMID:22095670
NPC1L1Humanprotein binding enablesIPIUniProtKB:Q9UHB6150520179 PMID:29880681UniProtPMID:29880681
NPC1L1Humanprotein binding enablesIPIUniProtKB:Q7L804150520179 PMID:19542231UniProtPMID:19542231
NPC1L1Humanprotein homodimerization activity enablesIDA 150520179 PMID:34407950UniProtPMID:34407950
NPC1L1Humansmall GTPase binding enablesIPIUniProtKB:P62491150520179 PMID:19542231UniProtPMID:19542231
NPC1L1Humanvitamin E binding enablesIDA 150520179 PMID:28315682UniProtPMID:28315682
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Object Symbol
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Reference
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Source
Original Reference(s)
NPC1L1HumanPleomorphic xanthoastrocytoma  IAGPRGD:128590218554872ClinVar Annotator: match by term: Pleomorphic xanthoastrocytomaClinVarPMID:28299358

#
Reference Title
Reference Citation
1. Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia. Davies JP, etal., J Biol Chem. 2005 Apr 1;280(13):12710-20. Epub 2005 Jan 25.
2. Deficiency of Niemann-Pick C1 Like 1 prevents atherosclerosis in ApoE-/- mice. Davis HR Jr, etal., Arterioscler Thromb Vasc Biol. 2007 Apr;27(4):841-9. Epub 2007 Jan 11.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Genes that affect cholesterol synthesis, cholesterol absorption, and chylomicron assembly: the relationship between the liver and intestine in control and streptozotosin diabetic rats. Lally S, etal., Metabolism. 2007 Mar;56(3):430-8.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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PMID:10783261   PMID:12477932   PMID:12690205   PMID:14976318   PMID:15604518   PMID:15679830   PMID:15790807   PMID:15928087   PMID:16098225   PMID:16297596   PMID:16449388   PMID:16518588  
PMID:16829661   PMID:17005902   PMID:17102949   PMID:17140581   PMID:17571164   PMID:17662536   PMID:18031309   PMID:18080173   PMID:18373109   PMID:18403720   PMID:18413323   PMID:18522826  
PMID:18522832   PMID:18641187   PMID:18641716   PMID:18783541   PMID:18850127   PMID:19071091   PMID:19265861   PMID:19325169   PMID:19443194   PMID:19542231   PMID:19747803   PMID:19752398  
PMID:19823104   PMID:19913121   PMID:20144195   PMID:20222991   PMID:20379057   PMID:20460578   PMID:20628086   PMID:20679960   PMID:20686565   PMID:20855565   PMID:20953676   PMID:21187433  
PMID:21189420   PMID:21525977   PMID:21602275   PMID:21683156   PMID:21873635   PMID:22095670   PMID:22579005   PMID:22646906   PMID:23139223   PMID:23415434   PMID:24097068   PMID:24336247  
PMID:24554660   PMID:24639526   PMID:24861377   PMID:24891511   PMID:24904062   PMID:24974575   PMID:25056759   PMID:25331956   PMID:25390462   PMID:25463095   PMID:25589339   PMID:25696002  
PMID:25739390   PMID:25770315   PMID:25841872   PMID:26253792   PMID:26492642   PMID:26761771   PMID:26800364   PMID:27075173   PMID:27650930   PMID:27697530   PMID:27701660   PMID:27769799  
PMID:28259659   PMID:28315682   PMID:29106532   PMID:29466845   PMID:29601818   PMID:29764733   PMID:29880681   PMID:29980051   PMID:30994973   PMID:31311377   PMID:31417158   PMID:31432115  
PMID:31883528   PMID:32410728   PMID:33167740   PMID:33188743   PMID:33760662   PMID:34198853   PMID:34407950   PMID:34511128   PMID:36583755   PMID:37355634   PMID:37704626   PMID:37788672  
PMID:38233830   PMID:38280151   PMID:38713618  
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NPC1L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38744,512,535 - 44,541,330 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,512,535 - 44,541,330 (-)EnsemblGRCh38hg38GRCh38
GRCh37744,552,134 - 44,580,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,518,659 - 44,547,439 (-)NCBINCBI36Build 36hg18NCBI36
Build 34744,325,376 - 44,354,154NCBI
Celera744,651,139 - 44,679,899 (-)NCBICelera
Cytogenetic Map7p13NCBI
HuRef744,436,243 - 44,465,023 (-)NCBIHuRef
CHM1_1744,556,489 - 44,585,261 (-)NCBICHM1_1
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)NCBI
Npc1l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39116,161,011 - 6,180,245 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl116,161,013 - 6,180,143 (-)EnsemblGRCm39 Ensembl
GRCm38116,211,011 - 6,230,245 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl116,211,013 - 6,230,143 (-)EnsemblGRCm38mm10GRCm38
MGSCv37116,111,014 - 6,130,248 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36116,111,461 - 6,130,126 (-)NCBIMGSCv36mm8
Celera116,693,602 - 6,712,842 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map113.93NCBI
Npc1l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81485,285,387 - 85,305,050 (-)NCBIGRCr8
mRatBN7.21481,071,448 - 81,091,113 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1481,071,451 - 81,091,113 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1485,472,534 - 85,492,247 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01486,712,619 - 86,732,332 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01483,161,944 - 83,181,659 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01486,345,946 - 86,560,694 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1486,345,953 - 86,560,694 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01487,307,372 - 87,319,081 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01487,516,291 - 87,523,225 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1479,954,434 - 79,974,086 (-)NCBICelera
Cytogenetic Map14q21NCBI
Npc1l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554567,528,423 - 7,547,720 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554567,528,452 - 7,547,714 (+)NCBIChiLan1.0ChiLan1.0
NPC1L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2649,424,993 - 49,453,745 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1797,749,732 - 97,778,483 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0745,227,289 - 45,256,094 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1745,296,365 - 45,324,692 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl745,297,271 - 45,324,692 (-)Ensemblpanpan1.1panPan2
NPC1L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha162,311,494 - 2,327,591 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01614,518,743 - 14,550,434 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1614,534,022 - 14,550,425 (+)EnsemblROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.01614,165,465 - 14,181,751 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01614,146,247 - 14,162,328 (+)NCBIUU_Cfam_GSD_1.0
Npc1l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118100,222,063 - 100,240,594 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647819,434,557 - 19,452,248 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647819,434,557 - 19,452,245 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPC1L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1850,726,922 - 50,757,649 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11850,726,854 - 50,757,676 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21855,630,239 - 55,657,272 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NPC1L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12114,129,413 - 14,163,916 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2114,130,767 - 14,163,907 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660628,377,157 - 8,405,655 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Npc1l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247407,590,046 - 7,609,420 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247407,590,041 - 7,609,574 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in NPC1L1
158 total Variants

1 to 10 of 187 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_001101648.2(NPC1L1):c.163G>T (p.Val55Leu) single nucleotide variant Ezetimibe response [RCV000002738] Chr7:44540234 [GRCh38]
Chr7:44579833 [GRCh37]
Chr7:7p13		 drug response
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn) single nucleotide variant Ezetimibe response [RCV000002739]|not provided [RCV004706443]|not specified [RCV000455151] Chr7:44516100 [GRCh38]
Chr7:44555699 [GRCh37]
Chr7:7p13		 likely benign|drug response
GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1 copy number loss See cases [RCV000052316] Chr7:44193369..46558381 [GRCh38]
Chr7:44232968..46597979 [GRCh37]
Chr7:44199493..46564504 [NCBI36]
Chr7:7p13-12.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 copy number loss See cases [RCV000053132] Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3		 pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
NM_013389.2(NPC1L1):c.2682C>T (p.Phe894=) single nucleotide variant Malignant melanoma [RCV000067882] Chr7:44522198 [GRCh38]
Chr7:44561797 [GRCh37]
Chr7:44528322 [NCBI36]
Chr7:7p13		 not provided
NM_013389.2(NPC1L1):c.733G>A (p.Glu245Lys) single nucleotide variant Malignant melanoma [RCV000067883] Chr7:44539664 [GRCh38]
Chr7:44579263 [GRCh37]
Chr7:44545788 [NCBI36]
Chr7:7p13		 not provided
NM_013389.2(NPC1L1):c.3008C>T (p.Pro1003Leu) single nucleotide variant Malignant melanoma [RCV000061654] Chr7:44521064 [GRCh38]
Chr7:44560663 [GRCh37]
Chr7:44527188 [NCBI36]
Chr7:7p13		 not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
1 to 10 of 187 rows

Predicted Target Of
Summary Value
Count of predictions:1390
Count of miRNA genes:647
Interacting mature miRNAs:729
Transcripts:ENST00000289547, ENST00000381160, ENST00000423141, ENST00000546276
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 79 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597607198GWAS1664058_Htotal cholesterol measurement QTL GWAS1664058 (human)2e-11total cholesterol measurementblood total cholesterol level (CMO:0000051)74454127744541278Human
407052353GWAS701329_Htotal cholesterol measurement QTL GWAS701329 (human)4e-15total cholesterol measurementblood total cholesterol level (CMO:0000051)74453958144539582Human
597288346GWAS1384420_Hapolipoprotein A 1 measurement, apolipoprotein B measurement QTL GWAS1384420 (human)7e-18very low density lipoprotein cholesterol measurement74454127744541278Human
597170719GWAS1266793_Hphospholipids in VLDL measurement QTL GWAS1266793 (human)7e-12blood VLDL phospholipid amount (VT:0010507)74454127744541278Human
597282960GWAS1379034_Hesterified cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS1379034 (human)4e-21esterified cholesterol measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)74454127744541278Human
597286418GWAS1382492_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1382492 (human)5e-11blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
597284631GWAS1380705_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS1380705 (human)6e-13cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human
597280905GWAS1376979_Htotal lipids in IDL QTL GWAS1376979 (human)3e-20total lipids in IDLblood intermediate density lipoprotein cholesterol level (CMO:0001562)74454127744541278Human
596954885GWAS1074404_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1074404 (human)2e-10phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement74454127744541278Human

1 to 10 of 79 rows
RH46066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,552,277 - 44,552,407UniSTSGRCh37
Build 36744,518,802 - 44,518,932RGDNCBI36
Celera744,651,282 - 44,651,412RGD
Cytogenetic Map7p13UniSTS
HuRef744,436,386 - 44,436,516UniSTS
CRA_TCAGchr7v2744,591,801 - 44,591,931UniSTS
GeneMap99-GB4 RH Map7203.67UniSTS
D7S2697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,574,438 - 44,574,555UniSTSGRCh37
Build 36744,540,963 - 44,541,080RGDNCBI36
Celera744,673,423 - 44,673,540RGD
Cytogenetic Map7p13UniSTS
HuRef744,458,547 - 44,458,664UniSTS
CRA_TCAGchr7v2744,613,952 - 44,614,069UniSTS
TNG Radiation Hybrid Map721779.0UniSTS
NPC1L1_9593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,552,075 - 44,552,752UniSTSGRCh37
Build 36744,518,600 - 44,519,277RGDNCBI36
Celera744,651,080 - 44,651,757RGD
HuRef744,436,184 - 44,436,861UniSTS
CRA_TCAGchr7v2744,591,599 - 44,592,276UniSTS
SGC38249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,552,195 - 44,552,493UniSTSGRCh37
Build 36744,518,720 - 44,519,018RGDNCBI36
Celera744,651,200 - 44,651,498RGD
Cytogenetic Map7p13UniSTS
HuRef744,436,304 - 44,436,602UniSTS
CRA_TCAGchr7v2744,591,719 - 44,592,017UniSTS
GeneMap99-GB4 RH Map7204.27UniSTS
Whitehead-RH Map7149.4UniSTS
NCBI RH Map7651.1UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2423 2778 2213 4747 1649 2229 2 613 1574 456 2191 6798 6046 34 3594 784 1690 1508 167 1


1 to 24 of 24 rows
RefSeq Transcripts NG_013088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001101648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY437865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY515256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ481111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 24 of 24 rows

Ensembl Acc Id: ENST00000289547   ⟹   ENSP00000289547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,512,535 - 44,541,315 (-)Ensembl
Ensembl Acc Id: ENST00000381160   ⟹   ENSP00000370552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,512,535 - 44,541,330 (-)Ensembl
Ensembl Acc Id: ENST00000423141   ⟹   ENSP00000404670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,533,227 - 44,541,315 (-)Ensembl
Ensembl Acc Id: ENST00000546276   ⟹   ENSP00000438033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,512,538 - 44,541,315 (-)Ensembl
RefSeq Acc Id: NM_001101648   ⟹   NP_001095118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,541,330 (-)NCBI
GRCh37744,552,134 - 44,580,914 (-)ENTREZGENE
GRCh37744,552,134 - 44,580,914 (-)NCBI
Build 36744,518,659 - 44,547,439 (-)NCBI Archive
HuRef744,436,243 - 44,465,023 (-)ENTREZGENE
CHM1_1744,556,489 - 44,585,261 (-)NCBI
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBI
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001300967   ⟹   NP_001287896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,533,227 - 44,541,330 (-)NCBI
CHM1_1744,577,173 - 44,585,261 (-)NCBI
T2T-CHM13v2.0744,692,927 - 44,701,030 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013389   ⟹   NP_037521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,541,330 (-)NCBI
GRCh37744,552,134 - 44,580,914 (-)ENTREZGENE
Build 36744,518,659 - 44,547,439 (-)NCBI Archive
HuRef744,436,243 - 44,465,023 (-)ENTREZGENE
CHM1_1744,556,489 - 44,585,261 (-)NCBI
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBI
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515326   ⟹   XP_011513628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,541,330 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515328   ⟹   XP_011513630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,540,160 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420280   ⟹   XP_047276236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,522,131 - 44,541,330 (-)NCBI
RefSeq Acc Id: XM_054358018   ⟹   XP_054213993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBI
RefSeq Acc Id: XM_054358019   ⟹   XP_054213994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,681,852 - 44,701,030 (-)NCBI
RefSeq Acc Id: XM_054358020   ⟹   XP_054213995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,672,255 - 44,700,025 (-)NCBI
1 to 5 of 13 rows
1 to 5 of 13 rows
RefSeq Acc Id: NP_001095118   ⟸   NM_001101648
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0C4DFX6 (UniProtKB/TrEMBL),   A0A0C4DGG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_037521   ⟸   NM_013389
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6R3Q4 (UniProtKB/Swiss-Prot),   Q17RV5 (UniProtKB/Swiss-Prot),   D3DVK9 (UniProtKB/Swiss-Prot),   B7ZLE6 (UniProtKB/Swiss-Prot),   A4D2J7 (UniProtKB/Swiss-Prot),   Q9UHC8 (UniProtKB/Swiss-Prot),   Q9UHC9 (UniProtKB/Swiss-Prot),   A0A0C4DGG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287896   ⟸   NM_001300967
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9UHC9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513628   ⟸   XM_011515326
- Peptide Label: isoform X1
- UniProtKB: A0A0C4DGG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513630   ⟸   XM_011515328
- Peptide Label: isoform X3
- Sequence:
SSD

Name Modeler Protein Id AA Range Protein Structure
AF-Q9UHC9-F1-model_v2 AlphaFold Q9UHC9 1-1359 view protein structure

RGD ID:7210515
Promoter ID:EPDNEW_H11004
Type:initiation region
Name:NPC1L1_1
Description:NPC1 like intracellular cholesterol transporter 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,541,330 - 44,541,390EPDNEW


1 to 40 of 44 rows
Database
Acc Id
Source(s)
COSMIC NPC1L1 COSMIC
Ensembl Genes ENSG00000015520 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000289547 ENTREZGENE
  ENST00000289547.8 UniProtKB/Swiss-Prot
  ENST00000381160 ENTREZGENE
  ENST00000423141 ENTREZGENE
  ENST00000423141.1 UniProtKB/Swiss-Prot
Gene3D-CATH Multidrug efflux transporter AcrB transmembrane domain UniProtKB/Swiss-Prot
GTEx ENSG00000015520 GTEx
HGNC ID HGNC:7898 ENTREZGENE
Human Proteome Map NPC1L1 Human Proteome Map
InterPro HMGCR/SNAP/NPC1-like_SSD UniProtKB/Swiss-Prot
  NPC1_MLD UniProtKB/Swiss-Prot
  NPC1_N UniProtKB/Swiss-Prot
  Ptc/Disp UniProtKB/Swiss-Prot
  SSD UniProtKB/Swiss-Prot
KEGG Report hsa:29881 UniProtKB/Swiss-Prot
NCBI Gene 29881 ENTREZGENE
OMIM 608010 OMIM
PANTHER NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 UniProtKB/Swiss-Prot
  NPC1-LIKE INTRACELLULAR CHOLESTEROL TRANSPORTER 1 UniProtKB/Swiss-Prot
Pfam NPC1_MLD UniProtKB/Swiss-Prot
  NPC1_N UniProtKB/Swiss-Prot
  Patched UniProtKB/Swiss-Prot
  Sterol-sensing UniProtKB/Swiss-Prot
PharmGKB NPC1L1 RGD, PharmGKB
PROSITE SSD UniProtKB/Swiss-Prot
Superfamily-SCOP Multidrug efflux transporter AcrB transmembrane domain UniProtKB/Swiss-Prot
UniProt A0A0C4DFX6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0C4DGG6 ENTREZGENE, UniProtKB/TrEMBL
  A4D2J7 ENTREZGENE
  B7ZLE6 ENTREZGENE
  D3DVK9 ENTREZGENE
  NPCL1_HUMAN UniProtKB/Swiss-Prot
  Q17RV5 ENTREZGENE
  Q6R3Q4 ENTREZGENE
  Q9UHC8 ENTREZGENE
  Q9UHC9 ENTREZGENE
UniProt Secondary A4D2J7 UniProtKB/Swiss-Prot
  B7ZLE6 UniProtKB/Swiss-Prot
1 to 40 of 44 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 NPC1L1  NPC1 like intracellular cholesterol transporter 1  NPC1L1  NPC1 like 1  Symbol and/or name change 5135510 APPROVED
2016-03-21 NPC1L1  NPC1 like 1  NPC1L1  NPC1-like 1  Symbol and/or name change 5135510 APPROVED
2012-11-20 NPC1L1  NPC1-like 1  NPC1L1  NPC1 (Niemann-Pick disease, type C1, gene)-like 1  Symbol and/or name change 5135510 APPROVED