Npc1l1 NPC1 like intracellular cholesterol transporter 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Npc1l1provided by MGI
Official Full Name: NPC1 like intracellular cholesterol transporter 1provided by MGI
Primary source: MGI:MGI:2685089
See related: Ensembl:ENSMUSG00000020447 AllianceGenome:MGI:2685089
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: Gm243; 9130221N23Rik
Summary: Predicted to enable several functions, including cholesterol binding activity; myosin V binding activity; and protein homodimerization activity. Involved in cholesterol transport and intestinal cholesterol absorption. Acts upstream of or within cholesterol homeostasis. Predicted to be located in apical plasma membrane and brush border membrane. Predicted to be active in plasma membrane. Orthologous to human NPC1L1 (NPC1 like intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in small intestine adult (RPKM 209.5), duodenum adult (RPKM 153.8) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 11 A1; 11 3.93 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (6161011..6180245, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (6211011..6230245, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.
Title: Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.
Bile acids-mediated intracellular cholesterol transport promotes intestinal cholesterol absorption and NPC1L1 recycling.
Title: Bile acids-mediated intracellular cholesterol transport promotes intestinal cholesterol absorption and NPC1L1 recycling.
NPC1L1 Deficiency Suppresses Ileal Fibroblast Growth Factor 15 Expression and Increases Bile Acid Pool Size in High-Fat-Diet-Fed Mice.
Title: NPC1L1 Deficiency Suppresses Ileal Fibroblast Growth Factor 15 Expression and Increases Bile Acid Pool Size in High-Fat-Diet-Fed Mice.
NPC1L1-dependent transport of 27-alkyne cholesterol in intestinal epithelial cells.
Title: NPC1L1-dependent transport of 27-alkyne cholesterol in intestinal epithelial cells.
NPC1L1 Facilitates Sphingomyelin Absorption and Regulates Diet-Induced Production of VLDL/LDL-associated S1P.
Title: NPC1L1 Facilitates Sphingomyelin Absorption and Regulates Diet-Induced Production of VLDL/LDL-associated S1P.
Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins.
Title: Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins.
Hepatic NPC1L1 overexpression attenuates alcoholic autophagy in mice.
Title: Hepatic NPC1L1 overexpression attenuates alcoholic autophagy in mice.
Results revealed that hepatic NPC1L1 exacerbates diet-induced dyslipidemia and atherosclerosis when intestinal NPC1L1 is functional.
Title: Hepatic Expression of Niemann-Pick C1-Like 1, a Cholesterol Reabsorber from Bile, Exacerbates Western Diet-Induced Atherosclerosis in LDL Receptor Mutant Mice.
TGIF1 represses Niemann-Pick C1 like 1 (Npc1l1) promoter activity in intestines, lowering intestinal cholesterol absorption.
Title: Overexpression of transforming growth factor β induced factor homeobox 1 represses NPC1L1 and lowers markers of intestinal cholesterol absorption.
The present study demonstrated that OPN deficiency reduced intestinal absorption of cholesterol by suppressing the expression of NPC1L1, thus protecting mice from cholesterol gallstone formation.
Title: Osteopontin deficiency protects mice from cholesterol gallstone formation by reducing expression of intestinal NPC1L1.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (4) 1 citation

General gene information

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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 heterocyclic compound binding	ISO Inferred from Sequence Orthology more info
enables lipid transporter activity	IEA Inferred from Electronic Annotation more info
enables myosin V binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables vitamin E binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to sterol depletion	ISO Inferred from Sequence Orthology more info
involved_in cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol import	ISO Inferred from Sequence Orthology more info
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in intestinal cholesterol absorption	IBA Inferred from Biological aspect of Ancestor more info
involved_in intestinal cholesterol absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intestinal cholesterol absorption	ISO Inferred from Sequence Orthology more info
involved_in lipoprotein metabolic process	ISO Inferred from Sequence Orthology more info
involved_in sterol transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin E metabolic process	ISO Inferred from Sequence Orthology more info
involved_in vitamin transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	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	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NPC1-like intracellular cholesterol transporter 1

Names: NPC1-like 1; Niemann-Pick disease, type C1; Niemann-Pick disease, type C1-like 1; niemann-Pick C1-like protein 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_207242.2 → NP_997125.2 NPC1-like intracellular cholesterol transporter 1 precursor

See identical proteins and their annotated locations for NP_997125.2

Status: VALIDATED

Source sequence(s)

AV377091, BB872216, BC131788, CJ191424

Consensus CDS

CCDS24413.1

UniProtKB/Swiss-Prot

Q5SVX1, Q6T3U4

UniProtKB/TrEMBL

Z4YJC9

Related

ENSMUSP00000004505.3, ENSMUST00000004505.3

Conserved Domains (3) summary

TIGR00917
Location:32 → 1267

2A060601; Niemann-Pick C type protein family

pfam12349
Location:684 → 815

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

pfam16414
Location:30 → 283

NPC1_N; Niemann-Pick C1 N terminus