Npc1 (NPC intracellular cholesterol transporter 1) - Rat Genome Database

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Gene: Npc1 (NPC intracellular cholesterol transporter 1) Mus musculus
Analyze
Symbol: Npc1
Name: NPC intracellular cholesterol transporter 1
RGD ID: 1553002
MGI Page MGI
Description: Predicted to enable cholesterol binding activity. Involved in several processes, including cholesterol homeostasis; protein glycosylation; and symbiont entry into host cell. Acts upstream of or within several processes, including adult walking behavior; cholesterol efflux; and cyclodextrin metabolic process. Located in several cellular components, including lysosome; membrane raft; and nuclear envelope. Is expressed in several structures, including genitourinary system; liver; lung; spleen; and stomach. Used to study Niemann-Pick disease and Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: A430089E03Rik; C85354; D18Ertd139; D18Ertd139e; D18Ertd723; D18Ertd723e; lc; lcsd; Niemann Pick type C1; Niemann-Pick C1 protein; Niemann-Pick type C1; nmf16; nmf164; sphingomyelinosis; spm
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391812,322,751 - 12,369,851 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1812,322,749 - 12,369,457 (-)EnsemblGRCm39 Ensembl
GRCm381812,189,694 - 12,236,506 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1812,189,692 - 12,236,400 (-)EnsemblGRCm38mm10GRCm38
MGSCv371812,348,203 - 12,394,895 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361812,333,398 - 12,379,894 (-)NCBIMGSCv36mm8
Celera1812,423,091 - 12,469,783 (-)NCBICelera
Cytogenetic Map18A1NCBI
cM Map186.15NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(25R)-cholest-5-ene-3beta,26-diol  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,1-dichloroethene  (EXP)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-bromohexadecanoic acid  (ISO)
2-methylcholine  (ISO)
2-palmitoylglycerol  (ISO)
26-hydroxycholesterol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (ISO)
ammonium chloride  (ISO)
antimycin A  (ISO)
Archazolid B  (ISO)
aristolochic acid A  (ISO)
arsenous acid  (ISO)
atrazine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
capsaicin  (ISO)
carbon nanotube  (EXP,ISO)
chlordecone  (EXP)
chloropicrin  (ISO)
cholesterol  (EXP,ISO)
ciglitazone  (ISO)
clobetasol  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
daunorubicin  (ISO)
DDE  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (ISO)
Dibutyl phosphate  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
epoxiconazole  (EXP)
ethanol  (EXP)
fenthion  (EXP)
fingolimod hydrochloride  (ISO)
fipronil  (ISO)
ganglioside GM1  (EXP)
gentamycin  (ISO)
indirubin  (ISO)
indometacin  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
isotretinoin  (ISO)
ivermectin  (ISO)
methylmercury chloride  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nitric oxide  (EXP)
nocodazole  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
phenylpropanolamine  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (EXP)
progesterone  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sulforaphane  (EXP,ISO)
sulindac  (ISO)
sunitinib  (ISO)
temozolomide  (ISO)
tert-butyl hydroperoxide  (ISO)
tetrachloromethane  (EXP,ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
thiram  (ISO)
titanium dioxide  (EXP)
trichloroethene  (ISO)
trichostatin A  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (EXP)
urethane  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)
Yessotoxin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal adenohypophysis morphology  (IAGP)
abnormal alveolar lamellar body morphology  (IAGP)
abnormal alveolar macrophage morphology  (IAGP)
abnormal astrocyte physiology  (IAGP)
abnormal axon morphology  (IAGP)
abnormal cellular cholesterol metabolism  (IAGP)
abnormal ceramide level  (IAGP)
abnormal cerebellum anterior vermis morphology  (IAGP)
abnormal cerebellum posterior vermis morphology  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal cholesterol homeostasis  (IAGP)
abnormal cholesterol level  (IAGP)
abnormal CNS glial cell morphology  (IAGP)
abnormal cornea morphology  (IAGP)
abnormal cytokine secretion  (IAGP)
abnormal enzyme/coenzyme activity  (IAGP)
abnormal enzyme/coenzyme level  (IAGP)
abnormal female reproductive system morphology  (IAGP)
abnormal gait  (IAGP)
abnormal glial cell physiology  (IAGP)
abnormal Golgi apparatus morphology  (IAGP)
abnormal granulosa cell morphology  (IAGP)
abnormal hepatocyte morphology  (IAGP)
abnormal hippocampus CA3 region morphology  (IAGP)
abnormal lipid homeostasis  (IAGP)
abnormal lipid level  (IAGP)
abnormal liver morphology  (IAGP)
abnormal lung morphology  (IAGP)
abnormal lung vasculature morphology  (IAGP)
abnormal lysosome physiology  (IAGP)
abnormal macrophage morphology  (IAGP)
abnormal maternal nurturing  (IAGP)
abnormal microglial cell activation  (IAGP)
abnormal mitochondrial crista morphology  (IAGP)
abnormal mitochondrial matrix morphology  (IAGP)
abnormal mitochondrial morphology  (IAGP)
abnormal mitochondrial physiology  (IAGP)
abnormal mitochondrial shape  (IAGP)
abnormal motor capabilities/coordination/movement  (IAGP)
abnormal myelination  (IAGP)
abnormal neocortex morphology  (IAGP)
abnormal neuron morphology  (IAGP)
abnormal object recognition memory  (IAGP)
abnormal olfactory bulb morphology  (IAGP)
abnormal olfactory epithelium morphology  (IAGP)
abnormal olfactory nerve morphology  (IAGP)
abnormal olfactory sensory neuron morphology  (IAGP)
abnormal olfactory system morphology  (IAGP)
abnormal ovarian follicle morphology  (IAGP)
abnormal ovary morphology  (IAGP)
abnormal pain threshold  (IAGP)
abnormal phospholipid level  (IAGP)
abnormal plasma membrane sphingolipid content  (IAGP)
abnormal pons morphology  (IAGP)
abnormal primary cilium morphology  (IAGP)
abnormal Purkinje cell axon morphology  (IAGP)
abnormal Purkinje cell dendrite morphology  (IAGP)
abnormal Purkinje cell focal axonal swelling  (IAGP)
abnormal Purkinje cell morphology  (IAGP)
abnormal respiratory system physiology  (IAGP)
abnormal response to novel object  (IAGP)
abnormal sperm head morphology  (IAGP)
abnormal sperm physiology  (IAGP)
abnormal sphingolipid level  (IAGP)
abnormal sphingomyelin level  (IAGP)
abnormal surfactant composition  (IAGP)
abnormal tertiary ovarian follicle morphology  (IAGP)
abnormal trigeminal ganglion morphology  (IAGP)
abnormal type II pneumocyte morphology  (IAGP)
absent corpus luteum  (IAGP)
absent estrous cycle  (IAGP)
absent mature ovarian follicles  (IAGP)
absent sperm flagellum  (IAGP)
absent sperm head  (IAGP)
adenohypophysis hypoplasia  (IAGP)
anovulation  (IAGP)
arrest of spermatogenesis  (IAGP)
astrocytosis  (IAGP)
ataxia  (IAGP)
axonal spheroids  (IAGP)
cornea deposits  (IAGP)
decreased abdominal fat pad weight  (IAGP)
decreased anxiety-related response  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased brain cholesterol level  (IAGP)
decreased brain size  (IAGP)
decreased brain weight  (IAGP)
decreased circulating prolactin level  (IAGP)
decreased corpus callosum size  (IAGP)
decreased endometrial gland number  (IAGP)
decreased exploration in new environment  (IEA)
decreased food intake  (IAGP)
decreased ganglioside level  (IAGP)
decreased grip strength  (IAGP)
decreased lactotroph cell number  (IAGP)
decreased liver cholesterol level  (IAGP)
decreased locomotor activity  (IAGP)
decreased ovary secretion  (IAGP)
decreased ovary weight  (IAGP)
decreased prepulse inhibition  (IAGP)
decreased prolactin level  (IAGP)
decreased Purkinje cell number  (IAGP)
decreased secondary ovarian follicle number  (IAGP)
decreased superovulation rate  (IAGP)
decreased susceptibility to weight loss  (IAGP)
decreased tertiary ovarian follicle number  (IAGP)
demyelination  (IAGP)
dilated liver sinusoidal space  (IAGP)
endometrium atrophy  (IAGP)
enlarged alveolar lamellar bodies  (IAGP)
enlarged liver  (IAGP)
enlarged spleen  (IAGP)
female infertility  (IAGP)
foam cell reticulosis  (IAGP)
hepatic steatosis  (IAGP)
hypoalgesia  (IAGP)
impaired balance  (IAGP)
impaired binding of sperm to zona pellucida  (IAGP)
impaired coordination  (IAGP)
impaired fertilization  (IAGP)
impaired learning  (IAGP)
impaired olfaction  (IAGP)
increased brain cholesterol level  (IAGP)
increased ceramide level  (IAGP)
increased cholesterol level  (IAGP)
increased circulating cholesterol level  (IAGP)
increased circulating follicle stimulating hormone level  (IAGP)
increased circulating LDL cholesterol level  (IAGP)
increased circulating luteinizing hormone level  (IAGP)
increased circulating VLDL cholesterol level  (IAGP)
increased ganglioside level  (IAGP)
increased grip strength  (IAGP)
increased lipid level  (IAGP)
increased liver cholesterol level  (IAGP)
increased liver weight  (IAGP)
increased locomotor activity  (IAGP)
increased lung cholesterol level  (IAGP)
increased lung weight  (IAGP)
increased macrophage cell number  (IAGP)
increased macrophage derived foam cell number  (IAGP)
increased microglial cell activation  (IAGP)
increased plasma membrane sphingolipid content  (IAGP)
increased startle reflex  (IAGP)
infertility  (IAGP)
lethality, incomplete penetrance  (IAGP)
lipidosis  (IAGP)
male infertility  (IAGP)
microgliosis  (IAGP)
nasal inflammation  (IAGP)
neurodegeneration  (IAGP)
no abnormal phenotype detected  (IAGP)
oligozoospermia  (IAGP)
pale liver  (IAGP)
premature death  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
preweaning lethality, incomplete penetrance  (IEA)
pulmonary alveolar proteinosis  (IAGP)
Purkinje cell degeneration  (IAGP)
reduced fertility  (IEA)
seminiferous tubule degeneration  (IAGP)
slow postnatal weight gain  (IAGP)
small cerebellum  (IAGP)
small ovary  (IAGP)
sphingomyelinosis  (IAGP)
teratozoospermia  (IAGP)
thick pulmonary interalveolar septum  (IAGP)
thin endometrium  (IAGP)
thin myometrium  (IAGP)
thin uterus  (IAGP)
tremors  (IAGP)
uterus atrophy  (IAGP)
weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Functional annotation of a full-length mouse cDNA collection. Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90.
2. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, etal., Development 2000 Apr;127(8):1737-49.
3. MGDs mouse GO annotations MGD data from the GO Consortium
4. MGD IEA MGD IEA
5. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Millat G, etal., Am J Hum Genet. 2001 Nov;69(5):1013-21. Epub 2001 Sep 20.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Mouse MP Annotation Import Pipeline RGD automated import pipeline
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1394466   PMID:1500436   PMID:1679325   PMID:3559164   PMID:3827919   PMID:3949747   PMID:4031853   PMID:6101077   PMID:6257302   PMID:6315811   PMID:6325448   PMID:6765731  
PMID:6765732   PMID:7202025   PMID:7484091   PMID:7600574   PMID:7670466   PMID:8181053   PMID:8288255   PMID:8312368   PMID:8370582   PMID:8382896   PMID:8446622   PMID:8900297  
PMID:9050921   PMID:9107683   PMID:9207099   PMID:9211850   PMID:9260750   PMID:9422368   PMID:9565090   PMID:9675302   PMID:9795206   PMID:9950794   PMID:9990080   PMID:10036317  
PMID:10349636   PMID:10482798   PMID:10518564   PMID:10608504   PMID:10682308   PMID:10767333   PMID:10770933   PMID:10787428   PMID:10922068   PMID:10936208   PMID:10946016   PMID:10967137  
PMID:11042159   PMID:11076861   PMID:11138930   PMID:11152466   PMID:11208732   PMID:11394880   PMID:11504598   PMID:11525744   PMID:11530237   PMID:11544199   PMID:11823057   PMID:11984826  
PMID:12151531   PMID:12183525   PMID:12215451   PMID:12297829   PMID:12417532   PMID:12437586   PMID:12458210   PMID:12466851   PMID:12477932   PMID:12528192   PMID:12530642   PMID:12611909  
PMID:12692847   PMID:12711537   PMID:12711538   PMID:12843267   PMID:12904583   PMID:12906793   PMID:14643015   PMID:14703504   PMID:14769381   PMID:15071184   PMID:15078881   PMID:15105438  
PMID:15144855   PMID:15208706   PMID:15217094   PMID:15331409   PMID:15353235   PMID:15355983   PMID:15465426   PMID:15544574   PMID:15639190   PMID:15644330   PMID:15647513   PMID:15652985  
PMID:15782199   PMID:15790756   PMID:15835268   PMID:15862536   PMID:15896196   PMID:15919659   PMID:15930512   PMID:15943586   PMID:16093251   PMID:16099992   PMID:16103921   PMID:16141072  
PMID:16141073   PMID:16175610   PMID:16192643   PMID:16340014   PMID:16374838   PMID:16461760   PMID:16525053   PMID:16757520   PMID:16785493   PMID:16850391   PMID:16940355   PMID:16950136  
PMID:16982810   PMID:17107950   PMID:17148552   PMID:17170046   PMID:17220530   PMID:17314284   PMID:17468177   PMID:17476031   PMID:17553802   PMID:17624314   PMID:17631520   PMID:17705200  
PMID:17880278   PMID:17895371   PMID:17921694   PMID:17984379   PMID:18077828   PMID:18160655   PMID:18190929   PMID:18199806   PMID:18216017   PMID:18287559   PMID:18438776   PMID:18450647  
PMID:18483620   PMID:18500759   PMID:18591368   PMID:18946078   PMID:18953351   PMID:19056848   PMID:19074461   PMID:19151629   PMID:19171898   PMID:19328188   PMID:19332999   PMID:19823766  
PMID:19875890   PMID:19883762   PMID:19884502   PMID:19893049   PMID:19910939   PMID:19965586   PMID:19965601   PMID:20007703   PMID:20007718   PMID:20153740   PMID:20167265   PMID:20386595  
PMID:20408952   PMID:20456004   PMID:20457914   PMID:20489167   PMID:20562239   PMID:20581737   PMID:20607864   PMID:20864542   PMID:20883783   PMID:21036943   PMID:21048217   PMID:21220512  
PMID:21267068   PMID:21289032   PMID:21303697   PMID:21430138   PMID:21459030   PMID:21507342   PMID:21550990   PMID:21575932   PMID:21697390   PMID:21704157   PMID:21708114   PMID:21815257  
PMID:21856732   PMID:21866101   PMID:21866103   PMID:21873635   PMID:21887293   PMID:21896731   PMID:21910975   PMID:22020183   PMID:22048958   PMID:22065762   PMID:22120593   PMID:22163015  
PMID:22198570   PMID:22216111   PMID:22223354   PMID:22325094   PMID:22493001   PMID:22526561   PMID:22619379   PMID:22776200   PMID:22869680   PMID:22872701   PMID:22892156   PMID:22990467  
PMID:23094108   PMID:23382922   PMID:23593041   PMID:23666527   PMID:23769925   PMID:23843985   PMID:23846690   PMID:23881911   PMID:23948640   PMID:23977027   PMID:24076310   PMID:24194600  
PMID:24235134   PMID:24290752   PMID:24367541   PMID:24391715   PMID:24412309   PMID:24488491   PMID:24599001   PMID:24631719   PMID:24644136   PMID:24671883   PMID:24747682   PMID:24752197  
PMID:24839095   PMID:24910948   PMID:24964810   PMID:24969023   PMID:25009206   PMID:25115571   PMID:25132229   PMID:25319340   PMID:25417698   PMID:25472750   PMID:25522247   PMID:25864931  
PMID:25979674   PMID:26015498   PMID:26019327   PMID:26275242   PMID:26433932   PMID:26467605   PMID:26603102   PMID:26682800   PMID:26707209   PMID:26724485   PMID:26771826   PMID:26908626  
PMID:26942423   PMID:26950892   PMID:27019000   PMID:27083515   PMID:27152617   PMID:27378690   PMID:27466344   PMID:27565738   PMID:27605553   PMID:27626380   PMID:27687148   PMID:27798114  
PMID:27816810   PMID:27860245   PMID:27888692   PMID:27896072   PMID:28031458   PMID:28053186   PMID:28082351   PMID:28130309   PMID:28167839   PMID:28379564   PMID:28487438   PMID:28542381  
PMID:29052144   PMID:29058287   PMID:29463856   PMID:29497113   PMID:29617956   PMID:29878115   PMID:29900534   PMID:29979789   PMID:30054450   PMID:30118401   PMID:30202070   PMID:30266834  
PMID:30418981   PMID:30666257   PMID:30775969   PMID:30815842   PMID:30888112   PMID:31004654   PMID:31067492   PMID:31086348   PMID:31141688   PMID:31146259   PMID:31178699   PMID:31254056  
PMID:31302243   PMID:31485950   PMID:31535451   PMID:31599924   PMID:31601621   PMID:31605022   PMID:31628414   PMID:31847086   PMID:31861571   PMID:31862414   PMID:31996359   PMID:31999726  
PMID:32144204   PMID:32244519   PMID:32325033   PMID:32371566   PMID:32410728   PMID:32472585   PMID:32611604   PMID:32770132   PMID:32794098   PMID:32890578   PMID:33016621   PMID:33129690  
PMID:33308480   PMID:33345999   PMID:33503462   PMID:33627648   PMID:33810307   PMID:33878344   PMID:34023384   PMID:34175669   PMID:34237247   PMID:34290407   PMID:34364974   PMID:34489968  
PMID:34720883   PMID:34948052   PMID:35024626   PMID:35507892   PMID:35563467   PMID:36065186   PMID:36116252   PMID:36379959   PMID:36455410   PMID:36614015   PMID:37024714   PMID:37054918  
PMID:37369603   PMID:37407594   PMID:37839992   PMID:38033125   PMID:38061599   PMID:38087834   PMID:38142760   PMID:38355793   PMID:38505613   PMID:38791456   PMID:39202426  


Genomics

Comparative Map Data
Npc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391812,322,751 - 12,369,851 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1812,322,749 - 12,369,457 (-)EnsemblGRCm39 Ensembl
GRCm381812,189,694 - 12,236,506 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1812,189,692 - 12,236,400 (-)EnsemblGRCm38mm10GRCm38
MGSCv371812,348,203 - 12,394,895 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361812,333,398 - 12,379,894 (-)NCBIMGSCv36mm8
Celera1812,423,091 - 12,469,783 (-)NCBICelera
Cytogenetic Map18A1NCBI
cM Map186.15NCBI
NPC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381823,506,184 - 23,586,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1823,506,184 - 23,586,506 (-)EnsemblGRCh38hg38GRCh38
GRCh371821,111,406 - 21,166,470 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361819,365,461 - 19,420,468 (-)NCBINCBI36Build 36hg18NCBI36
Build 341819,365,461 - 19,420,426NCBI
Celera1817,927,454 - 17,982,730 (-)NCBICelera
Cytogenetic Map18q11.2NCBI
HuRef1817,966,414 - 18,021,712 (-)NCBIHuRef
CHM1_11821,038,743 - 21,093,877 (-)NCBICHM1_1
T2T-CHM13v2.01823,700,273 - 23,780,767 (-)NCBIT2T-CHM13v2.0
Npc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8183,654,237 - 3,699,853 (-)NCBIGRCr8
mRatBN7.2183,379,482 - 3,425,100 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl183,379,482 - 3,425,049 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx183,609,340 - 3,655,207 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0184,397,038 - 4,442,908 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0183,637,638 - 3,683,548 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0183,616,878 - 3,662,656 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl183,616,878 - 3,662,683 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0183,626,015 - 3,671,677 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4183,725,415 - 3,777,707 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1183,725,710 - 3,726,684 (-)NCBI
Celera183,239,322 - 3,285,547 (-)NCBICelera
Cytogenetic Map18p13NCBI
Npc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540211,699,434 - 11,742,899 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540211,699,434 - 11,742,899 (-)NCBIChiLan1.0ChiLan1.0
NPC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21740,962,496 - 41,017,769 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11826,655,088 - 26,710,342 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01816,783,096 - 16,838,301 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11820,409,040 - 20,463,623 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1820,409,040 - 20,463,623 (-)Ensemblpanpan1.1panPan2
NPC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1764,764,941 - 64,802,507 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl764,760,121 - 64,802,902 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha764,198,337 - 64,251,229 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0764,809,192 - 64,861,828 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl764,809,032 - 64,862,075 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1764,477,149 - 64,529,713 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0764,492,712 - 64,545,342 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0764,797,527 - 64,850,181 (+)NCBIUU_Cfam_GSD_1.0
Npc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494460,783,918 - 60,832,909 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365502,980,442 - 3,032,229 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365502,983,172 - 3,032,222 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6108,402,879 - 108,450,990 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16108,403,126 - 108,450,486 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26101,001,696 - 101,049,542 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NPC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11856,956,557 - 57,007,951 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1856,956,174 - 57,007,474 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605031,704,487 - 31,759,266 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Npc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247708,592,457 - 8,641,843 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247708,592,473 - 8,642,063 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Npc1
1826 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:724
Count of miRNA genes:511
Interacting mature miRNAs:585
Transcripts:ENSMUST00000025279, ENSMUST00000133112, ENSMUST00000144435, ENSMUST00000145771, ENSMUST00000149211
Prediction methods: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.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
4142127Rafaril_mRafar interacting locus (mouse)Not determined18123108555Mouse
14928307Manh83_mmandible shape 83 (mouse)18126902168Mouse
12801458Intmrm3_mintima/media ratio modifier 3 (mouse)18131720756Mouse
13432190Actrse5_mactivity response to saline/ethanol 5 (mouse)181217454817574548Mouse
11354953Mom21_mmodifier of Min 21 (mouse)18128893823Mouse
12801462Intim3_mintima modifier 3 (mouse)18131720756Mouse
4142250Idd21.3_minsulin dependent diabetes susceptibility 21.3 (mouse)Not determined18610840421646477Mouse
1558849W3q15_mweight 3 weeks QTL 15 (mouse)Not determined18504111961272643Mouse
13207585Mwmlpt3_mMorris water maze latency to platform, training, 3 (mouse)18133547739Mouse
13207589Mwmlpa3_mMorris water maze latency to platform, all, 3 (mouse)18133547739Mouse
27226723Tibw9_mtibia width 9, proximal, 16 week (mouse)18320000060933072Mouse
1558873Hrtfm7_mheart failure modifier 7 (mouse)Not determined18808696442087106Mouse

Markers in Region
RH136258  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381812,189,828 - 12,190,041UniSTSGRCm38
MGSCv371812,348,337 - 12,348,550UniSTSGRCm37
Celera1812,423,225 - 12,423,438UniSTS
Cytogenetic Map18A1UniSTS
cM Map184.0UniSTS
Npc1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18A1UniSTS
cM Map184.0UniSTS
D18Mit38  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381812,230,645 - 12,230,770UniSTSGRCm38
MGSCv371812,389,154 - 12,389,279UniSTSGRCm37
Celera1812,464,040 - 12,464,167UniSTS
Cytogenetic Map18A1UniSTS
cM Map183.0UniSTS
Whitehead Genetic182.2UniSTS
C85354  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381812,189,741 - 12,189,832UniSTSGRCm38
MGSCv371812,348,250 - 12,348,341UniSTSGRCm37
Celera1812,423,138 - 12,423,229UniSTS
Cytogenetic Map18A1UniSTS
cM Map184.0UniSTS
Whitehead/MRC_RH18208.07UniSTS
RH126057  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381812,189,972 - 12,190,219UniSTSGRCm38
MGSCv371812,348,481 - 12,348,728UniSTSGRCm37
Celera1812,423,369 - 12,423,616UniSTS
Cytogenetic Map18A1UniSTS
cM Map184.0UniSTS
cM Map183.0UniSTS
Whitehead/MRC_RH18206.21UniSTS
D18Ertd723e  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381812,189,769 - 12,189,998UniSTSGRCm38
MGSCv371812,348,278 - 12,348,507UniSTSGRCm37
Celera1812,423,166 - 12,423,395UniSTS
Cytogenetic Map18A1UniSTS
cM Map183.0UniSTS
cM Map184.0UniSTS
D10Mit157.2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6D1UniSTS
Cytogenetic Map16B4UniSTS
Cytogenetic Map18E2UniSTS
Cytogenetic Map4C3UniSTS
Cytogenetic Map7B2UniSTS
Cytogenetic Map4D2.3UniSTS
Cytogenetic Map11E1UniSTS
Cytogenetic Map14E2.2UniSTS
Cytogenetic Map4C7UniSTS
Cytogenetic Map2H4UniSTS
Cytogenetic Map1FUniSTS
Cytogenetic Map6C3UniSTS
Cytogenetic Map11DUniSTS
Cytogenetic Map3G2UniSTS
Cytogenetic Map17A1UniSTS
Cytogenetic Map9F2UniSTS
Cytogenetic Map12F1UniSTS
Cytogenetic Map19C2UniSTS
Cytogenetic Map3BUniSTS
Cytogenetic Map8C1UniSTS
Cytogenetic Map18A2UniSTS
Cytogenetic Map3F2UniSTS
Cytogenetic Map14C3UniSTS
Cytogenetic Map8E1UniSTS
Cytogenetic Map8E2UniSTS
Cytogenetic Map5B1UniSTS
Cytogenetic Map18B1UniSTS
Cytogenetic Map9CUniSTS
Cytogenetic Map14C2UniSTS
Cytogenetic Map6A1UniSTS
Cytogenetic Map10B4UniSTS
Cytogenetic Map13D2.1UniSTS
Cytogenetic Map5E5UniSTS
Cytogenetic Map11B1.3UniSTS
Cytogenetic Map4D1UniSTS
Cytogenetic Map9A5.2UniSTS
Cytogenetic Map3F1UniSTS
Cytogenetic Map17E3UniSTS
Cytogenetic Map11B3UniSTS
Cytogenetic Map1H4UniSTS
Cytogenetic Map6A3UniSTS
Cytogenetic Map5E4-E5UniSTS
Cytogenetic Map15E1UniSTS
Cytogenetic Map13DUniSTS
Cytogenetic Map14BUniSTS
Cytogenetic Map14D1UniSTS
Cytogenetic Map7B4UniSTS
Cytogenetic Map8D3UniSTS
Cytogenetic MapXDUniSTS
Cytogenetic Map17A3.3UniSTS
Cytogenetic Map7E2UniSTS
Cytogenetic Map1H2.3UniSTS
Cytogenetic Map7A2UniSTS
Cytogenetic Map7F3UniSTS
Cytogenetic Map9F1UniSTS
Cytogenetic Map10C1UniSTS
Cytogenetic Map4E2UniSTS
Cytogenetic Map16A1UniSTS
Cytogenetic Map8B3.3UniSTS
Cytogenetic Map8D2UniSTS
Cytogenetic Map3DUniSTS
Cytogenetic Map15D2UniSTS
Cytogenetic Map17B1UniSTS
Cytogenetic Map7A3UniSTS
Cytogenetic Map15F1UniSTS
Cytogenetic Map16B2UniSTS
Cytogenetic Map7CUniSTS
Cytogenetic Map3F2.1UniSTS
Cytogenetic Map6F3UniSTS
Cytogenetic Map1C4UniSTS
Cytogenetic Map11E2UniSTS
Cytogenetic Map11B5UniSTS
Cytogenetic Map9F3UniSTS
Cytogenetic Map2BUniSTS
Cytogenetic Map13B3UniSTS
Cytogenetic Map9A4UniSTS
Cytogenetic Map5A3UniSTS
Cytogenetic Map2H1UniSTS
Cytogenetic Map16B1UniSTS
Cytogenetic Map1A5UniSTS
Cytogenetic Map11CUniSTS
Cytogenetic Map9E1UniSTS
Cytogenetic Map6G1UniSTS
Cytogenetic MapXA2UniSTS
Cytogenetic Map13B1UniSTS
Cytogenetic Map5E2UniSTS
Cytogenetic Map12C1UniSTS
Cytogenetic Map5FUniSTS
Cytogenetic Map4D3UniSTS
Cytogenetic Map10C2UniSTS
Cytogenetic Map9BUniSTS
Cytogenetic Map5G2UniSTS
Cytogenetic Map7F1UniSTS
Cytogenetic Map12C3UniSTS
Cytogenetic Map10A4UniSTS
Cytogenetic Map8A2UniSTS
Cytogenetic Map18A1UniSTS
Cytogenetic Map12A1.1UniSTS
Cytogenetic Map1C2UniSTS
Cytogenetic Map11B2UniSTS
Cytogenetic Map6E3UniSTS
Cytogenetic Map5C3.3UniSTS
Cytogenetic Map1BUniSTS
Cytogenetic Map17A3.1UniSTS
Cytogenetic Map7A1UniSTS
Cytogenetic Map2E5UniSTS
Cytogenetic Map11A1UniSTS
Cytogenetic Map4B1UniSTS
Cytogenetic Map15A2UniSTS
Cytogenetic Map8C3UniSTS
Cytogenetic Map2A3UniSTS
Cytogenetic Map5G3UniSTS
Cytogenetic Map4A3UniSTS
Cytogenetic Map2H3UniSTS
Cytogenetic Map8A1UniSTS
Cytogenetic Map8A1.1UniSTS
Cytogenetic Map16A3UniSTS
Cytogenetic Map10B1UniSTS
Cytogenetic Map19AUniSTS
Cytogenetic Map10A1UniSTS
Cytogenetic Map13D1UniSTS
Cytogenetic Map4A1UniSTS
Cytogenetic Map9A3UniSTS
Cytogenetic Map17CUniSTS
Cytogenetic Map1DUniSTS
Cytogenetic Map5E3UniSTS
Cytogenetic Map15D3UniSTS
Cytogenetic Map2H2UniSTS
Cytogenetic Map7D3UniSTS
Cytogenetic Map2A1UniSTS
Cytogenetic Map14C1UniSTS
Cytogenetic Map14E5UniSTS
Cytogenetic Map10CUniSTS
Cytogenetic Map18B2UniSTS
Cytogenetic Map2F1UniSTS
Cytogenetic Map10D3UniSTS
Cytogenetic Map17A2UniSTS
Cytogenetic Map2C3UniSTS
Cytogenetic Map1C3UniSTS
Cytogenetic Map17B2UniSTS
Cytogenetic Map5B2UniSTS
Cytogenetic Map5G1UniSTS
Cytogenetic Map4C6UniSTS
Cytogenetic Map13C3UniSTS
Cytogenetic Map2E1UniSTS
Cytogenetic Map17A3.2-A3.3UniSTS
Cytogenetic Map19C3UniSTS
Cytogenetic Map7E3UniSTS
Cytogenetic Map13C1UniSTS
Cytogenetic Map9E3.1UniSTS
Cytogenetic Map15E3UniSTS
Cytogenetic Map6B1UniSTS
Cytogenetic MapXE3UniSTS
Cytogenetic Map4C4UniSTS
Cytogenetic Map3E3UniSTS
Cytogenetic Map11A4UniSTS
Cytogenetic Map4C5UniSTS
Cytogenetic Map18B3UniSTS
Cytogenetic Map9A2UniSTS
Cytogenetic Map7E1UniSTS
Cytogenetic Map5D-E1UniSTS
Cytogenetic Map5B3UniSTS
Cytogenetic Map13A2-A3UniSTS
Cytogenetic Map5A2UniSTS
Cytogenetic Map4B3UniSTS
Cytogenetic Map1E4UniSTS
Cytogenetic Map17E4UniSTS
Cytogenetic Map1G2UniSTS
Cytogenetic Map15B3.1UniSTS
Cytogenetic Map12EUniSTS
Cytogenetic MapXA5UniSTS
Cytogenetic Map6A3.3UniSTS
Cytogenetic Map6G3UniSTS
Cytogenetic Map6F2UniSTS
Cytogenetic Map5C1UniSTS
Cytogenetic Map4D2.1UniSTS
Cytogenetic Map4A5UniSTS
Cytogenetic Map3F2.2UniSTS
Cytogenetic Map1E3-E4UniSTS
Cytogenetic Map9F1-F3UniSTS
Cytogenetic Map1C1.1UniSTS
Cytogenetic Map14D2UniSTS
Cytogenetic Map12A2UniSTS
Cytogenetic Map17A3-BUniSTS
Cytogenetic Map7F5UniSTS
Cytogenetic Map14A3UniSTS
Cytogenetic Map5G1.1UniSTS
Cytogenetic MapXF2-F4UniSTS
Cytogenetic Map7D2UniSTS
Cytogenetic Map2F3UniSTS
Cytogenetic Map10A3UniSTS
Cytogenetic MapXA7.3UniSTS
Cytogenetic Map9F1-F2UniSTS
Cytogenetic Map13A3.2UniSTS
Cytogenetic Map10A2UniSTS
Cytogenetic Map1C1UniSTS
Cytogenetic Map1A1UniSTS
Cytogenetic Map12D3UniSTS
Cytogenetic Map1A3-A5UniSTS
Cytogenetic Map2A2UniSTS
Cytogenetic Map3A1UniSTS
Cytogenetic MapXA3.3UniSTS
Cytogenetic Map16A-B1UniSTS
Cytogenetic Map1D2.3UniSTS
Cytogenetic Map6B2.3UniSTS
Cytogenetic Map2G3UniSTS
Cytogenetic MapXA2-A3.1UniSTS
Cytogenetic Map9A5.3UniSTS
Cytogenetic Map14A2-BUniSTS
Cytogenetic Map8E1-E2UniSTS
Cytogenetic Map8A3UniSTS
Cytogenetic Map1G3-H1UniSTS
Cytogenetic Map8B3-C1UniSTS
Cytogenetic Map19C1UniSTS
Cytogenetic Map8C5UniSTS
Cytogenetic Map8A4UniSTS
Cytogenetic Map15F3UniSTS
Cytogenetic Map14E4UniSTS
Cytogenetic Map4D2.2UniSTS
Cytogenetic MapXF5UniSTS
cM Map1040.0UniSTS
Whitehead Genetic1033.9UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_008720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017317849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC102096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC102248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF184964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF411926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK003935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK040367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK044878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK087174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK154282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK155379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK170880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK171371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK179090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK195629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK203292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF585180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000025279   ⟹   ENSMUSP00000025279
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1812,322,750 - 12,369,457 (-)Ensembl
GRCm38.p6 Ensembl1812,189,693 - 12,236,400 (-)Ensembl
Ensembl Acc Id: ENSMUST00000133112
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1812,350,635 - 12,369,415 (-)Ensembl
GRCm38.p6 Ensembl1812,217,578 - 12,236,358 (-)Ensembl
Ensembl Acc Id: ENSMUST00000144435
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1812,354,903 - 12,357,144 (-)Ensembl
GRCm38.p6 Ensembl1812,221,846 - 12,224,087 (-)Ensembl
Ensembl Acc Id: ENSMUST00000145771
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1812,343,441 - 12,345,611 (-)Ensembl
GRCm38.p6 Ensembl1812,210,384 - 12,212,554 (-)Ensembl
Ensembl Acc Id: ENSMUST00000149211
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1812,351,051 - 12,369,383 (-)Ensembl
GRCm38.p6 Ensembl1812,217,994 - 12,236,326 (-)Ensembl
Ensembl Acc Id: ENSMUST00000234044
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1812,322,749 - 12,328,464 (-)Ensembl
GRCm38.p6 Ensembl1812,189,692 - 12,195,407 (-)Ensembl
Ensembl Acc Id: ENSMUST00000235105
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1812,325,958 - 12,327,327 (-)Ensembl
GRCm38.p6 Ensembl1812,192,901 - 12,194,270 (-)Ensembl
RefSeq Acc Id: NM_008720   ⟹   NP_032746
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391812,322,751 - 12,369,443 (-)NCBI
GRCm381812,189,694 - 12,236,386 (-)NCBI
MGSCv371812,348,203 - 12,394,895 (-)RGD
Celera1812,423,091 - 12,469,783 (-)RGD
cM Map18 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_017317849   ⟹   XP_017173338
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391812,323,312 - 12,369,851 (-)NCBI
GRCm381812,190,285 - 12,236,506 (-)NCBI
Sequence:
RefSeq Acc Id: NP_032746   ⟸   NM_008720
- Peptide Label: precursor
- UniProtKB: G3X8W9 (UniProtKB/Swiss-Prot),   O35605 (UniProtKB/Swiss-Prot),   O35604 (UniProtKB/Swiss-Prot),   Q7TMD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_017173338   ⟸   XM_017317849
- Peptide Label: isoform X1
- UniProtKB: Q7TMD4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000025279   ⟸   ENSMUST00000025279
Protein Domains
Niemann-Pick C1 N-terminal   SSD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O35604-F1-model_v2 AlphaFold O35604 1-1277 view protein structure

Promoters
RGD ID:13677124
Promoter ID:EPDNEW_M22711
Type:initiation region
Name:Npc1_1
Description:Mus musculus NPC intracellular cholesterol transporter 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381812,236,354 - 12,236,414EPDNEW
RGD ID:6829419
Promoter ID:MM_KWN:24616
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lung
Transcripts:OTTMUST00000069861
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361812,370,351 - 12,370,851 (-)MPROMDB
RGD ID:6829411
Promoter ID:MM_KWN:24617
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_0Hour,   BoneMarrow_4Hour,   Liver
Transcripts:OTTMUST00000069860
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361812,382,556 - 12,383,112 (-)MPROMDB
RGD ID:6829413
Promoter ID:MM_KWN:24618
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:OTTMUST00000069856,   OTTMUST00000069857,   OTTMUST00000069859,   UC008ECC.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361812,394,746 - 12,395,587 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1097712 AgrOrtholog
Ensembl Genes ENSMUSG00000024413 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000025279 ENTREZGENE
  ENSMUST00000025279.6 UniProtKB/Swiss-Prot
Gene3D-CATH Multidrug efflux transporter AcrB transmembrane domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro HMGCR/SNAP/NPC1-like_SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPC1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPC1_MLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPC1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ptc/Disp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:18145 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:1097712 ENTREZGENE
NCBI Gene 18145 ENTREZGENE
PANTHER NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 UniProtKB/Swiss-Prot
  NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 UniProtKB/Swiss-Prot
  NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 UniProtKB/TrEMBL
  NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 UniProtKB/TrEMBL
Pfam NPC1_MLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPC1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Patched UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sterol-sensing UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Npc1 PhenoGen
PROSITE SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Multidrug efflux transporter AcrB transmembrane domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt G3X8W9 ENTREZGENE
  NPC1_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  O35605 ENTREZGENE
  Q3U2B2_MOUSE UniProtKB/TrEMBL
  Q7TMD4 ENTREZGENE, UniProtKB/TrEMBL
  Q8BLK0_MOUSE UniProtKB/TrEMBL
  Q924N8_MOUSE UniProtKB/TrEMBL
UniProt Secondary G3X8W9 UniProtKB/Swiss-Prot
  O35605 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-09-05 Npc1  NPC intracellular cholesterol transporter 1    Niemann-Pick type C1  Symbol and/or name change 5135510 APPROVED
2014-04-09 Npc1  Niemann-Pick type C1    Niemann Pick type C1  Symbol and/or name change 5135510 APPROVED