Npc1l1 NPC1 like intracellular cholesterol transporter 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Npc1l1provided by RGD
Official Full Name: NPC1 like intracellular cholesterol transporter 1provided by RGD
Primary source: RGD:1303135
See related: EnsemblRapid:ENSRNOG00000049955 AllianceGenome:RGD:1303135
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: SLC66A2
Summary: Enables heterocyclic compound binding activity. Involved in several processes, including cholesterol import; response to muscle activity; and vitamin transport. Located in apical plasma membrane and brush border membrane. Orthologous to human NPC1L1 (NPC1 like intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Testes (RPKM 3.3) and Spleen (RPKM 0.5) See more
Orthologs: human mouse all
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Genomic context

Location:: 14q21

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	14	NC_086032.1 (85285387..85305050, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	14	NC_051349.1 (81071448..81091113, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	14	NC_005113.4 (86345946..86560694, complement)

Chromosome 14 - NC_086032.1 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?

Decreased mRNA levels of HNF4alpha and SREBP2 in mice could be involved in the reduction in NPC1L1 expression.
Title: Impact of a high-cholesterol diet on expression levels of Niemann-Pick C1-like 1 and intestinal transporters in rats and mice.
demonstrate that Niemann-Pick C1-like 1 (NPC1L1) protein, a cholesterol transporter, plays a central role in intestinal VK uptake and modulates the anticoagulant effect of warfarin. In
Title: NPC1L1 is a key regulator of intestinal vitamin K absorption and a modulator of warfarin therapy.
Cdc42 controls the cholesterol-regulated transport and localization of NPC1L1, and plays a role in cholesterol absorption.
Title: The small GTPase Cdc42 interacts with Niemann-Pick C1-like 1 (NPC1L1) and controls its movement from endocytic recycling compartment to plasma membrane in a cholesterol-dependent manner.
The increased expression of NPC1L1 might contribute to hypercholesterolemia, which may be involved in the pathogenesis of transplant arteriosclerosis.
Title: Increased NPC1L1 and serum cholesterol in a chronic rejection rat.
flotillins have a role in NPC1L1-mediated cholesterol uptake and NPC1L1-flotillins-postive cholesterol-enriched membrane microdomains are involved in the mechanism for efficient cholesterol absorption
Title: Flotillins play an essential role in Niemann-Pick C1-like 1-mediated cholesterol uptake.
the efficient transport of NPC1L1 to the PM is dependent on the microfilament-associated myosin Vb.Rab11a.Rab11-FIP2 triple complex
Title: Requirement of myosin Vb.Rab11a.Rab11-FIP2 complex in cholesterol-regulated translocation of NPC1L1 to the cell surface.
study demonstrates dynamic trafficking of NPC1L1 between the cell surface and intracellular compartments in hepatoma cells and suggests that this transport is involved in NPC1L1-mediated cellular sterol uptake
Title: Kinetic imaging of NPC1L1 and sterol trafficking between plasma membrane and recycling endosomes in hepatoma cells.
NPC1L1 exists as a predominantly cell surface membrane expressed protein, consistent with its proposed role as the putative intestinal sterol transporter
Title: Characterization of the putative native and recombinant rat sterol transporter Niemann-Pick C1 Like 1 (NPC1L1) protein.
NPC1L1 protein plays a critical role in the absorption of intestinal cholesterol. NPC1L1 expression is enriched in the small intestine and is in the brush border membrane of enterocytes.
Title: Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

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	IPI Inferred from Physical Interaction more info	PubMed
enables lipid transporter activity	IEA Inferred from Electronic Annotation more info
enables myosin V binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in cholesterol import	IDA Inferred from Direct Assay 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	ISO Inferred from Sequence Orthology more info
involved_in lipoprotein metabolic process	ISO Inferred from Sequence Orthology more info
involved_in response to muscle activity	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to xenobiotic stimulus	IEP Inferred from Expression Pattern more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
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 (Niemann-Pick disease, type C1, gene)-like 1; NPC1-like 1; Niemann-Pick C1-like protein 1; Niemann-Pick disease, type C1-like 1; solute carrier family 66 member 2

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_001002025.1 → NP_001002025.1 NPC1-like intracellular cholesterol transporter 1 precursor

See identical proteins and their annotated locations for NP_001002025.1

Status: PROVISIONAL

Source sequence(s)

AY437867

UniProtKB/Swiss-Prot

Q6T3U3

UniProtKB/TrEMBL

A6IKS2

Related

ENSRNOP00000065524.1, ENSRNOT00000075827.4

Conserved Domains (3) summary

TIGR00917
Location:32 → 1267

2A060601; Niemann-Pick C type protein family

pfam12349
Location:662 → 814

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

pfam16414
Location:30 → 283

NPC1_N; Niemann-Pick C1 N terminus