About   Help   FAQ
Npc1
Gene Detail
Symbol

Name
ID
Npc1
Niemann-Pick type C1
MGI:1097712
Synonyms
A430089E03Rik, C85354, D18Ertd139e, D18Ertd723e, lcsd, nmf164
Feature Type
protein coding gene
Genetic Map
Chromosome 18
6.15 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr18:12189693-12236400 bp, - strand
From VEGA annotation of GRCm38

  46708 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:228  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NPC1
Gene Tree: Npc1

Human
homologs
NPC1, Niemann-Pick disease, type C1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4864
neXtProt AC: NX_O15118

Human Synonyms: NPC

Human Chr (Location): 18q11.2; chr18:23506184-23586617 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human NPC1

Mutations,
alleles, and
phenotypes
All mutations/alleles(19) : Chemically induced (ENU)(1) Gene trapped(8) Spontaneous(2) Targeted(7) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.
 
Human Diseases Modeled in Mice Using Npc1 (1)    Mutations Annotated to Human Diseases (6)    Phenotype Images(4)
Interactions
Npc1 interacts with 230 markers (Mir7-2, Mir7b, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (45 annotations)
Process adult walking behavior, autophagy, ...
Component endoplasmic reticulum, endosome, ...
Function cholesterol binding, hedgehog receptor activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (41)    Tissues (27)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 24
Northern blot 17
cDNA source data(19)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase npc1 ; ZFIN npc1    NEW 
Molecular
reagents
All nucleic(28) Genomic(6) cDNA(19) Primer pair(3)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000028201 (Evidence)
Ensembl Gene Model ENSMUSG00000024413 (Evidence)
Entrez Gene 18145 (Evidence)
DFCI TC1708170, TC1657081, TC1625851, TC1610485, TC1575103
NIA Mouse Gene Index U038214
Consensus CDS Project CCDS29064.1
International Mouse Phenotyping Consortium Status Npc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028201 VEGA Gene Model | MGI Sequence Detail 46708 C57BL/6J ±  kb
transcript OTTMUST00000069856 VEGA | MGI Sequence Detail 5224 Not Applicable 
polypeptide OTTMUSP00000035538 VEGA | MGI Sequence Detail 1277 Not Applicable 

For the selected sequences
All sequences(52) RefSeq(2) UniProt(4)
Polymorphisms
SNPs within 2kb(646 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:000011355 niemann-Pick C1 protein
References
(Earliest) J:83825 Boothe AD, et al., Tissue cholesterol storage disorder in BALB/c mice: histologic findings. Fed Proc. 1977;36:1158 (Abstr.)
(Latest) J:221855 Praggastis M, et al., A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele. J Neurosci. 2015 May 27;35(21):8091-106
All references(236)
Disease annotation references (22)
Other
accession IDs
MGD-MRK-11760, MGD-MRK-14533, MGI:1098628, MGI:1289269, MGI:2147413, MGI:2444276, MGI:2686738, MGI:96758, MGI:98383

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/21/2015
MGI 5.22
The Jackson Laboratory