Npc1 NPC intracellular cholesterol transporter 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Npc1provided by MGI
Official Full Name: NPC intracellular cholesterol transporter 1provided by MGI
Primary source: MGI:MGI:1097712
See related: Ensembl:ENSMUSG00000024413 AllianceGenome:MGI:1097712
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: spm; lcsd; nmf164; D18Ertd139e; D18Ertd723e; A430089E03Rik
Summary: Predicted to enable cholesterol binding activity. Involved in several processes, including cholesterol homeostasis; protein glycosylation; and viral entry into host cell. Acts upstream of or within several processes, including adult walking behavior; cellular response to low-density lipoprotein particle stimulus; and cholesterol efflux. Located in several cellular components, including Golgi apparatus; 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). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung adult (RPKM 23.0), placenta adult (RPKM 16.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A1; 18 6.15 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (12322751..12369851, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (12189694..12236506, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NPC1 is required for postnatal islet beta cell differentiation by maintaining mitochondria turnover.
Title: NPC1 is required for postnatal islet β cell differentiation by maintaining mitochondria turnover.
NPC1-like phenotype, with intracellular cholesterol accumulation and altered mTORC1 signaling in models of Parkinson's disease.
Title: NPC1-like phenotype, with intracellular cholesterol accumulation and altered mTORC1 signaling in models of Parkinson's disease.
Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis.
Title: Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis.
The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells.
Title: The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells.
Acat1/Soat1 knockout extends the mutant Npc1 mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cells.
Title: Acat1/Soat1 knockout extends the mutant Npc1 mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cells.
Glial contribution to cyclodextrin-mediated reversal of cholesterol accumulation in murine NPC1-deficient neurons in vivo.
Title: Glial contribution to cyclodextrin-mediated reversal of cholesterol accumulation in murine NPC1-deficient neurons in vivo.
Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation.
Title: Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation.
Delineation of metabolic responses of Npc1(-/-nih) mice lacking the cholesterol-esterifying enzyme SOAT2 to acute treatment with 2-hydroxypropyl-beta-cyclodextrin.
Title: Delineation of metabolic responses of Npc1(-/-nih) mice lacking the cholesterol-esterifying enzyme SOAT2 to acute treatment with 2-hydroxypropyl-β-cyclodextrin.
Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage.
Title: Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage.
NPC1-mTORC1 Signaling Couples Cholesterol Sensing to Organelle Homeostasis and Is a Targetable Pathway in Niemann-Pick Type C.
Title: NPC1-mTORC1 Signaling Couples Cholesterol Sensing to Organelle Homeostasis and Is a Targetable Pathway in Niemann-Pick Type C.

Submit: New GeneRIF Correction See all GeneRIFs (114)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (2) 1 citation
Targeted (9) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18Mit38 (e-PCR), detects polymorphism
- UniSTS:128260

D18Ertd723e (e-PCR), detects polymorphism
- UniSTS:167242

RH136258 (e-PCR)
- UniSTS:210251

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Npc1 (e-PCR), detects polymorphism
- UniSTS:305553

C85354 (e-PCR)
- UniSTS:160712

RH126057 (e-PCR)
- UniSTS:162769

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol binding	ISO Inferred from Sequence Orthology more info
enables lipid transporter activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult walking behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within autophagy	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within cellular response to low-density lipoprotein particle stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular response to steroid hormone stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol efflux	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cholesterol storage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cyclodextrin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization to membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intestinal cholesterol absorption	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular lipid transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of macroautophagy	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of macroautophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane raft organization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epithelial cell apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of macroautophagy	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of macroautophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein glycosylation	ISO Inferred from Sequence Orthology more info
involved_in response to cadmium ion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in symbiont entry into host cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in symbiont entry into host cell	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: NPC intracellular cholesterol transporter 1

Names: Niemann-Pick type C1; niemann-Pick C1 protein; sphingomyelinosis

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008720.2 → NP_032746.2 NPC intracellular cholesterol transporter 1 precursor

See identical proteins and their annotated locations for NP_032746.2

Status: VALIDATED

Source sequence(s)

AK003935, BC052437, CF585180

Consensus CDS

CCDS29064.1

UniProtKB/Swiss-Prot

G3X8W9, O35604, O35605

UniProtKB/TrEMBL

Q7TMD4

Related

ENSMUSP00000025279.6, ENSMUST00000025279.6

Conserved Domains (3) summary

TIGR00917
Location:25 → 1251

2A060601; Niemann-Pick C type protein family

pfam12349
Location:649 → 802

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

pfam16414
Location:23 → 267

NPC1_N; Niemann-Pick C1 N terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

12322751..12369851 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017317849.3 → XP_017173338.1 NPC intracellular cholesterol transporter 1 isoform X1

UniProtKB/TrEMBL

Q7TMD4

Conserved Domains (1) summary

TIGR00917
Location:25 → 1250

2A060601; Niemann-Pick C type protein family