Npc1 NPC intracellular cholesterol transporter 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Npc1provided by RGD
Official Full Name: NPC intracellular cholesterol transporter 1provided by RGD
Primary source: RGD:628693
See related: Ensembl:ENSRNOG00000012016 AllianceGenome:RGD:628693
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Cdig2; SLC66A1
Summary: Predicted to enable cholesterol binding activity and cholesterol transfer activity. Involved in negative regulation of epithelial cell apoptotic process and response to cadmium ion. Predicted to be located in several cellular components, including bounding membrane of organelle; membrane raft; and perinuclear region of cytoplasm. Predicted to be active in lysosome and plasma membrane. 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, Jul 2025]
Expression: Biased expression in Liver (RPKM 242.1), Lung (RPKM 117.2) and 9 other tissues See more
Orthologs: all
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Genomic context

Location:: 18p13

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	18	NC_086036.1 (3654237..3699853, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	18	NC_051353.1 (3379482..3425100, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	18	NC_005117.4 (3616878..3662656, complement)

Chromosome 18 - NC_086036.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increased exosome secretion in neurons aging in vitro by NPC1-mediated endosomal cholesterol buildup.
Title: Increased exosome secretion in neurons aging in vitro by NPC1-mediated endosomal cholesterol buildup.
Here, we identify lamellar inclusions as the subcellular site of lipid accumulation in neurons, we uncover a vicious cycle of cholesterol synthesis and accretion, which may cause gradual neurodegeneration, and we reveal how beta-cyclodextrin, a potential therapeutic drug, reverts these changes. Our study provides new mechanistic insight in NPC disease and uncovers new targets for therapeutic approaches.
Title: Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions.
NPC1 and NPC2 are associated with the lamellar bodies of type II pneumocyte cells and function to regulate cholesterol content within this organelle.
Title: Characterization of the Niemann-Pick C pathway in alveolar type II cells and lamellar bodies of the lung.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127929 (e-PCR)
- UniSTS:211239

RH136258 (e-PCR)
- UniSTS:210251

RH143683 (e-PCR)
- UniSTS:232929

RH140621 (e-PCR)
- UniSTS:222690

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol transfer activity	IEA Inferred from Electronic Annotation more info
enables cholesterol transfer activity	ISO Inferred from Sequence Orthology more info
enables lipid carrier activity	IEA Inferred from Electronic Annotation more info

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

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasmic side of lysosomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasmic side of lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in late endosome membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
is_active_in lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in vesicle	IEA Inferred from Electronic Annotation more info
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NPC intracellular cholesterol transporter 1

Names: Niemann-Pick disease, type C1; solute carrier family 66 member 1

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_153624.2 → NP_705888.2 NPC intracellular cholesterol transporter 1 precursor

See identical proteins and their annotated locations for NP_705888.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000018

UniProtKB/TrEMBL

A0A8I6GB30, A6KNH0, G3V7K5

Related

ENSRNOP00000016167.4, ENSRNOT00000016167.9

Conserved Domains (3) summary

TIGR00917
Location:26 → 1252

2A060601; Niemann-Pick C type protein family

pfam12349
Location:650 → 803

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

pfam16414
Location:24 → 268

NPC1_N; Niemann-Pick C1 N terminus

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086036.1 Reference GRCr8

Range

3654237..3699853 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039096607.2 → XP_038952535.1 NPC intracellular cholesterol transporter 1 isoform X1

UniProtKB/TrEMBL

A0A8I6GB30

Conserved Domains (1) summary

TIGR00917
Location:26 → 1251

2A060601; Niemann-Pick C type protein family