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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: NPC1L1
Gene Tree: Npc1l1

Human
homologs
NPC1L1, NPC1-like 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 29881
neXtProt AC: NX_Q9UHC9

Human Synonyms: NPC11L1

Human Chr (Location): 7p13; chr7:44512535-44541330 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(1) Targeted(4) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 65 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase npc1l1    NEW 
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000000776 (Evidence)
Ensembl Gene Model ENSMUSG00000020447 (Evidence)
Entrez Gene 237636 (Evidence)
UniGene 212492
DFCI TC1597119, TC1700924
DoTS DT.97360731, DT.97408716
NIA Mouse Gene Index U032484
Consensus CDS Project CCDS24413.1
International Mouse Phenotyping Consortium Status Npc1l1
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(40)

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
08/18/2015
MGI 6.0
The Jackson Laboratory