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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic; pig, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Npc1 ± 2 cM)

Gene Tree: Npc1

Human ortholog

NPC1 Niemann-Pick disease, type C1 NCBI Gene ID 4864
Human Synonyms: NPC
Human Chr18:21111463-21166581 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human NPC1 (1)

Alleles and phenotypes

All alleles(16) : Targeted(5) Gene trapped(8) Spontaneous(2) Chemically induced(1)
 

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 Using Mouse Npc1 (2)    Alleles Annotated to Human Diseases(5)    Phenotype Images(4)

Gene Ontology (GO) classifications

All GO classifications: (37 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)
Theiler Stages: 10, 18, 23, 25, 28

Assay Type	Results
RNA in situ	24
Northern blot	17

cDNA source data(19)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

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	TC1575103, TC1610485, TC1625851, TC1657081, TC1708170
NIA Mouse Gene Index	U038214
Consensus CDS Project	CCDS29064.1
International Mouse Knockout Project Status	Npc1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000028201	VEGA Gene Model | MGI Sequence Detail	46708	C57BL/6J
transcript	OTTMUST00000069856	VEGA | MGI Sequence Detail	5224	Not Applicable
polypeptide	OTTMUSP00000035538	VEGA | MGI Sequence Detail	1277	Not Applicable

All sequences(53) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(347 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:192177 Alam MS, et al., Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorder. PLoS One. 2012;7(10):e48273
All references(214)

Other accession IDs

MGD-MRK-11760, MGD-MRK-14533, MGI:1098628, MGI:1289269, MGI:2147413, MGI:2444276, MGI:2686738, MGI:96758, MGI:98383