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NPC1L1

CANCER ATLAS

Gene description

 NPC1-like 1

Protein class

 FDA approved drug targets, Predicted membrane proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
CAB070127
CAB070128

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

Contact

The Project

The Human Protein Atlas

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