InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NPC1L1

Summary

InnateDB Gene

IDBG-14860.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NPC1L1

Gene Name

NPC1-like 1

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000015520

Encoded Proteins

IDBP-14862

NPC1 (Niemann-Pick disease, type C1, gene)-like 1

IDBP-14864

NPC1 (Niemann-Pick disease, type C1, gene)-like 1

IDBP-374155

NPC1 (Niemann-Pick disease, type C1, gene)-like 1

IDBP-599583

NPC1 (Niemann-Pick disease, type C1, gene)-like 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 7:44512535-44541315

Strand

Reverse strand

Band

p13

Transcripts

ENST00000289547	ENSP00000289547
ENST00000381160	ENSP00000370552
ENST00000423141	ENSP00000404670
ENST00000546276	ENSP00000438033

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	1 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008144	drug binding
GO:0008158	hedgehog receptor activity
GO:0017137	Rab GTPase binding
GO:0031489	myosin V binding

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0007165	signal transduction
GO:0015918	sterol transport
GO:0030299	intestinal cholesterol absorption
GO:0030301	cholesterol transport
GO:0042157	lipoprotein metabolic process
GO:0042493	response to drug
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0030659	cytoplasmic vesicle membrane
GO:0031526	brush border membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000020447

View Gene Order

ENSBTAG00000044146

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04975

Fat digestion and absorption pathway

INOH

PID NCI

Cross-References

SwissProt

Q9UHC9

TrEMBL

UniProt Splice Variant

Entrez Gene

29881

UniGene

Hs.567486

RefSeq

NM_001101648 NM_001300967 NM_013389 XM_006715709

HUGO

HGNC:7898

OMIM

608010

CCDS

CCDS43575 CCDS5491 CCDS75587

HPRD

09725

IMGT

EMBL

AC004938 AF192522 AF192523 AY437865 AY515256 BC117178 BC143756 CH236960 CH471128 FJ481111

GenPept

AAF20396 AAF20397 AAI17179 AAI43757 AAR97886 AAS56939 ACL18055 EAL23753 EAW61096 EAW61097 EAW61098

RNA Seq Atlas

29881