Cell atlas - NPC1L1 - The Human Protein Atlas

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NPC1L1

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	NPC1L1
Gene description	NPC1-like 1
Protein class	FDA approved drug targets Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	4
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Group enriched (SCLC-21H, Hep G2, CACO-2)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (SCLC-21H, Hep G2, CACO-2) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	NPC1L1
Synonyms
Description	NPC1-like 1 (HGNC Symbol)
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]
Chromosome	7
Cytoband	p13
Chromosome location (bp)	44512535 - 44541315
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000015520 (version 83.38)
Entrez gene	29881
UniProt	Q9UHC9 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UHC9
Antibodypedia	NPC1L1 antibodies

PROTEIN BROWSER

NPC1L1-001	NPC1L1-002	NPC1L1-003	NPC1L1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
NPC1L1-001 ENSP00000289547 ENST00000289547	Q9UHC9 [Direct mapping] Niemann-Pick C1-like protein 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Show all	GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0006695 [cholesterol biosynthetic process] GO:0007165 [signal transduction] GO:0008144 [drug binding] GO:0008158 [hedgehog receptor activity] GO:0015918 [sterol transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016324 [apical plasma membrane] GO:0017137 [Rab GTPase binding] GO:0030299 [intestinal cholesterol absorption] GO:0030301 [cholesterol transport] GO:0030659 [cytoplasmic vesicle membrane] GO:0031489 [myosin V binding] GO:0031526 [brush border membrane] GO:0042157 [lipoprotein metabolic process] GO:0042493 [response to drug] GO:0042632 [cholesterol homeostasis] GO:0044281 [small molecule metabolic process] Show all	1359 aa 148.7 kDa	Yes	>9
NPC1L1-002 ENSP00000404670 ENST00000423141	Q9UHC9 [Direct mapping] Niemann-Pick C1-like protein 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 6TM proteins predicted by MDM FDA approved drug targets Small molecule drugs Show all	GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0006695 [cholesterol biosynthetic process] GO:0007165 [signal transduction] GO:0008158 [hedgehog receptor activity] GO:0015918 [sterol transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016324 [apical plasma membrane] GO:0017137 [Rab GTPase binding] GO:0030299 [intestinal cholesterol absorption] GO:0030301 [cholesterol transport] GO:0030659 [cytoplasmic vesicle membrane] GO:0031489 [myosin V binding] GO:0042157 [lipoprotein metabolic process] GO:0044281 [small molecule metabolic process] Show all	724 aa 79.1 kDa	Yes	6
NPC1L1-003 ENSP00000370552 ENST00000381160	A0A0C4DFX6 [Direct mapping] Niemann-Pick C1-like protein 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Protein evidence (Kim et al 2014) Show all	GO:0007165 [signal transduction] GO:0008158 [hedgehog receptor activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0030301 [cholesterol transport] Show all	1332 aa 145.8 kDa	Yes	>9
NPC1L1-201 ENSP00000438033 ENST00000546276	A0A0C4DGG6 [Direct mapping] Niemann-Pick C1-like protein 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Show all	GO:0007165 [signal transduction] GO:0008158 [hedgehog receptor activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] Show all	1286 aa 140.4 kDa	Yes	>9

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.