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Npc1l1
Gene Detail
 Symbol
Name
ID
Npc1l1
NPC1-like 1
MGI:2685089
Synonyms 9130221N23Rik, Niemann-Pick disease, type C1
Feature Type protein coding gene
Genetic Map
Chromosome 11
3.93 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr11:6211013-6230143 bp, - strand
From VEGA annotation of GRCm38

  19131 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56585  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Npc1l1

Human
homologs
Human Homolog NPC1L1, NPC1-like 1
NCBI Gene ID 29881
neXtProt AC  NX_Q9UHC9
Human Synonyms  NPC11L1
Human Chr (Location)  7p13; chr7:44512535-44541315 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a targeted null mutation exhibit normal intestinal development, fertility and plasma cholesterol and triglyceride levels; however, intestinal cholesterol absorption was substantially reduced.
 
Interactions
Npc1l1 interacts with 66 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process cholesterol biosynthetic process, cholesterol homeostasis, ...
Component brush border membrane, integral component of membrane, ...
Function drug binding, hedgehog receptor activity, ...
External Resources: FuncBase
Expression
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000000776 (Evidence)
Ensembl Gene ModelENSMUSG00000020447 (Evidence)
Entrez Gene237636 (Evidence)
UniGene212492
DFCITC1597119, TC1700924
DoTSDT.97360731, DT.97408716
NIA Mouse Gene IndexU032484
Consensus CDS ProjectCCDS24413.1
International Mouse Knockout Project StatusNpc1l1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000776 VEGA Gene Model | MGI Sequence Detail 19131 C57BL/6J ±  kb
transcript OTTMUST00000001518 VEGA | MGI Sequence Detail 4467 Not Applicable 
polypeptide OTTMUSP00000000725 VEGA | MGI Sequence Detail 1333 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(4) UniProt(4)
Polymorphisms SNPs within 2kb(67 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004765 Niemann-Pick C type protein
InterPro IPR003392 Patched
InterPro IPR000731 Sterol-sensing domain
Protein Ontology PR:000011356 niemann-Pick C1-like protein 1
References (Earliest) J:89712 Altmann SW, et al., Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption. Science. 2004 Feb 20;303(5661):1201-4
(Latest) J:177621 Tang W, et al., Ezetimibe restores biliary cholesterol excretion in mice expressing Niemann-Pick C1-Like 1 only in liver. Biochim Biophys Acta. 2011 Sep;1811(9):549-55
All references(41)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory