Gene description for NPC1
Gene name Niemann-Pick disease, type C1
Gene symbol NPC1
Other names/aliases NPC
Species Homo sapiens
 Database cross references - NPC1
ExoCarta ExoCarta_4864
Vesiclepedia VP_4864
Entrez Gene 4864
HGNC 7897
MIM 607623
UniProt O15118  
 NPC1 identified in exosomes derived from the following tissue/cell type
Bone marrow mesenchymal stem cells 36408942    
Bone marrow mesenchymal stem cells 36408942    
Bone marrow mesenchymal stem cells 36408942    
Bone marrow mesenchymal stem cells 36408942    
Chondrocytes 35931686    
Chondrocytes 35931686    
Chondrocytes 35931686    
Chondrocytes 35931686    
Colorectal cancer cells 34887515    
Gastric cancer cells 33991177    
Gastric cancer cells 33991177    
Gastric cancer cells 33991177    
Mesenchymal stem cells 36408942    
Ovarian cancer cells 23333927    
Ovarian cancer cells 23333927    
Prostate cancer cells 25844599    
Retinal pigment epithelial cells 35333565    
Retinal pigment epithelial cells 35333565    
Urine 19056867    
 Gene ontology annotations for NPC1
Molecular Function
    receptor activity GO:0004872 TAS
    transmembrane signaling receptor activity GO:0004888 TAS
    protein binding GO:0005515 IPI
    hedgehog receptor activity GO:0008158 IEA
    sterol transporter activity GO:0015248 TAS
    cholesterol binding GO:0015485 IDA
Biological Process
    cholesterol homeostasis GO:0042632 ISS
    protein glycosylation GO:0006486 IDA
    cholesterol metabolic process GO:0008203 IEA
    autophagy GO:0006914 IGI
    lysosomal transport GO:0007041 ISS
    response to cadmium ion GO:0046686 IEA
    cholesterol transport GO:0030301 IDA
    response to drug GO:0042493 IEA
    negative regulation of macroautophagy GO:0016242 IEA
    bile acid metabolic process GO:0008206 ISS
    positive regulation of cholesterol homeostasis GO:2000189 IMP
    endocytosis GO:0006897 IEA
    establishment of protein localization to membrane GO:0090150 IDA
    cholesterol efflux GO:0033344 IDA
    viral entry into host cell GO:0046718 IMP
    membrane raft organization GO:0031579 IMP
    negative regulation of cell death GO:0060548 IEA
    cellular response to steroid hormone stimulus GO:0071383 IEA
    signal transduction GO:0007165 TAS
    cellular response to low-density lipoprotein particle stimulus GO:0071404 IEA
    adult walking behavior GO:0007628 IEA
Subcellular Localization
    integral component of plasma membrane GO:0005887 IDA
    lysosome GO:0005764 ISS
    Golgi apparatus GO:0005794 IEA
    perinuclear region of cytoplasm GO:0048471 IDA
    endoplasmic reticulum GO:0005783 IDA
    late endosome membrane GO:0031902 IEA
    membrane GO:0016020 IDA
    extracellular region GO:0005576 ISS
    nuclear envelope GO:0005635 IDA
    integral component of membrane GO:0016021 TAS
    extracellular exosome GO:0070062 IDA
    membrane raft GO:0045121 IEA
    lysosomal membrane GO:0005765 IDA
 Experiment description of studies that identified NPC1 in exosomes
1
Experiment ID 489
MISEV standards
✔
EM
EV Biophysical techniques
✔
Cd9|Cd81|Cd63|Gapdh|Sdcbp|Lamp1|Aqp1|Rab5a|Icam1|Cd82|Itga2b|Tsg101|Lamp2|Rab35|Flot1|Flot2|Cd151|Rab5b|Tfrc|Uchl1
EV Enriched markers
✔
Canx
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Rattus norvegicus
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ.
Journal name Proteomics
Publication year 2023
Sample Bone marrow mesenchymal stem cells
Sample name BMSC - Passage 6
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
2
Experiment ID 490
MISEV standards
✔
EM
EV Biophysical techniques
✔
Cd9|Cd81|Cd63|Gapdh|Sdcbp|Lamp1|Aqp1|Rab5a|Icam1|Cd82|Itga2b|Tsg101|Lamp2|Rab35|Flot1|Flot2|Cd151|Rab5b|Tfrc|Uchl1
EV Enriched markers
✔
Canx
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Rattus norvegicus
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ.
Journal name Proteomics
Publication year 2023
Sample Bone marrow mesenchymal stem cells
Sample name BMSC - Passage 7
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
3
Experiment ID 491
MISEV standards
✔
EM
EV Biophysical techniques
✔
Cd9|Cd81|Cd63|Gapdh|Sdcbp|Lamp1|Aqp1|Rab5a|Icam1|Cd82|Itga2b|Tsg101|Lamp2|Rab35|Flot1|Flot2|Cd151|Rab5b|Tfrc|Uchl1
EV Enriched markers
✔
Canx
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Rattus norvegicus
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ.
Journal name Proteomics
Publication year 2023
Sample Bone marrow mesenchymal stem cells
Sample name BMSC - Passage 8
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
4
Experiment ID 492
MISEV standards
✔
EM
EV Biophysical techniques
✔
Cd9|Cd81|Cd63|Gapdh|Sdcbp|Lamp1|Aqp1|Rab5a|Icam1|Cd82|Itga2b|Tsg101|Lamp2|Rab35|Flot1|Flot2|Cd151|Rab5b|Tfrc|Uchl1
EV Enriched markers
✔
Canx
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Rattus norvegicus
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ.
Journal name Proteomics
Publication year 2023
Sample Bone marrow mesenchymal stem cells
Sample name BMSC - Passage 9
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
5
Experiment ID 494
MISEV standards
✔
EM
EV Biophysical techniques
✔
CD9|CD81|CD151|CD63|CD82|FLOT1|FLOT2|GAPDH|LAMP1|LAMP2|SDCBP|TFRC|TSG101
EV Enriched markers
✘ EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35931686    
Organism Homo sapiens
Experiment description Extracellular vesicles enriched in connexin 43 promote a senescent phenotype in bone and synovial cells contributing to osteoarthritis progression
Authors Varela-Eirín M, Carpintero-Fernández P, Guitián-Caamaño A, Varela-Vázquez A, García-Yuste A, Sánchez-Temprano A, Bravo-López SB, Yañez-Cabanas J, Fonseca E, Largo R, Mobasheri A, Caeiro JR, Mayán MD.
Journal name Cell Death Dis
Publication year 2022
Sample Chondrocytes
Sample name Osteoarthritic cartilage
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
6
Experiment ID 496
MISEV standards
✘ EV Biophysical techniques
✔
CD9|CD151|CD63|CD81|CD82|FLOT1|FLOT2|GAPDH|LAMP1|LAMP2|SDCBP|TFRC|TSG101
EV Enriched markers
✘ EV Negative markers
✘ EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35931686    
Organism Homo sapiens
Experiment description Extracellular vesicles enriched in connexin 43 promote a senescent phenotype in bone and synovial cells contributing to osteoarthritis progression
Authors Varela-Eirín M, Carpintero-Fernández P, Guitián-Caamaño A, Varela-Vázquez A, García-Yuste A, Sánchez-Temprano A, Bravo-López SB, Yañez-Cabanas J, Fonseca E, Largo R, Mobasheri A, Caeiro JR, Mayán MD.
Journal name Cell Death Dis
Publication year 2022
Sample Chondrocytes
Sample name Healthy cartilage
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
7
Experiment ID 497
MISEV standards
✘ EV Biophysical techniques
✔
CD9|CD151|CD63|CD81|CD82|FLOT1|FLOT2|GAPDH|LAMP1|LAMP2|RAB5A|SDCBP|TFRC|TSG101|UCHL1
EV Enriched markers
✘ EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35931686    
Organism Homo sapiens
Experiment description Extracellular vesicles enriched in connexin 43 promote a senescent phenotype in bone and synovial cells contributing to osteoarthritis progression
Authors Varela-Eirín M, Carpintero-Fernández P, Guitián-Caamaño A, Varela-Vázquez A, García-Yuste A, Sánchez-Temprano A, Bravo-López SB, Yañez-Cabanas J, Fonseca E, Largo R, Mobasheri A, Caeiro JR, Mayán MD.
Journal name Cell Death Dis
Publication year 2022
Sample Chondrocytes
Sample name T/C-28a2
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
8
Experiment ID 498
MISEV standards
✔
EM
EV Biophysical techniques
✔
CD9|CD151|CD63|CD81|CD82|FLOT1|FLOT2|GAPDH|LAMP1|LAMP2|RAB5A|SDCBP|TFRC|TSG101|UCHL1
EV Enriched markers
✘ EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35931686    
Organism Homo sapiens
Experiment description Extracellular vesicles enriched in connexin 43 promote a senescent phenotype in bone and synovial cells contributing to osteoarthritis progression
Authors Varela-Eirín M, Carpintero-Fernández P, Guitián-Caamaño A, Varela-Vázquez A, García-Yuste A, Sánchez-Temprano A, Bravo-López SB, Yañez-Cabanas J, Fonseca E, Largo R, Mobasheri A, Caeiro JR, Mayán MD.
Journal name Cell Death Dis
Publication year 2022
Sample Chondrocytes
Sample name T/C-28a2
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
9
Experiment ID 1203
MISEV standards
✔
EM
EV Biophysical techniques
✔
SDCBP|FLOT1|CD9|CD81|CD63|EPCAM|GAPDH|LAMP1|TFRC|CD151|CD82|LAMP2|RAB35|TSG101|FLOT2|RAB5B|ICAM1|RAB5A
EV Enriched markers
✘ EV Negative markers
✘ EV Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 34887515    
Organism Homo sapiens
Experiment description Supermeres are functional extracellular nanoparticles replete with disease biomarkers and therapeutic targets
Authors Zhang Q, Jeppesen DK, Higginbotham JN, Graves-Deal R, Trinh VQ, Ramirez MA, Sohn Y, Neininger AC, Taneja N, McKinley ET, Niitsu H, Cao Z, Evans R, Glass SE, Ray KC, Fissell WH, Hill S, Rose KL, Huh WJ, Washington MK, Ayers GD, Burnette DT, Sharma S, Rome LH, Franklin JL, Lee YA, Liu Q, Coffey RJ.
Journal name Nat Cell Biol
Publication year 2021
Sample Colorectal cancer cells
Sample name DiFi
Isolation/purification methods Differential centrifugation
Filtration
Centrifugal ultrafiltration
Ultracentrifugation
OptiPrep density gradient centrifugation
Flotation density -
Molecules identified in the study Protein
miRNA
Methods used in the study Western blotting
Mass spectrometry
RNA sequencing
10
Experiment ID 363
MISEV standards
✘ EV Biophysical techniques
✔
TSG101|GAPDH|AQP1|CD151|CD81|CD82|CD9|EPCAM|FLOT1|FLOT2|ICAM1|ITGA2B|LAMP2|RAB35|RAB5A|RAB5B|SDCBP|TFRC|UCHL1
EV Enriched markers
✔
DCLK1
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 33991177    
Organism Homo sapiens
Experiment description Cancer stem cell marker DCLK1 reprograms small extracellular vesicles toward migratory phenotype in gastric cancer cells
Authors Carli ALE, Afshar-Sterle S, Rai A, Fang H, O'Keefe R, Tse J, Ferguson FM, Gray NS, Ernst M, Greening DW, Buchert M.
Journal name Proteomics
Publication year 2021
Sample Gastric cancer cells
Sample name MKN1 - 100K pellet
Isolation/purification methods Differential centrifugation
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectrometry
11
Experiment ID 364
MISEV standards
✘ EV Biophysical techniques
✔
TSG101|GAPDH|AQP1|CD151|CD81|CD82|CD9|EPCAM|FLOT1|FLOT2|ICAM1|ITGA2B|LAMP2|RAB35|RAB5A|RAB5B|SDCBP|TFRC|UCHL1
EV Enriched markers
✔
DCLK1
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 33991177    
Organism Homo sapiens
Experiment description Cancer stem cell marker DCLK1 reprograms small extracellular vesicles toward migratory phenotype in gastric cancer cells
Authors Carli ALE, Afshar-Sterle S, Rai A, Fang H, O'Keefe R, Tse J, Ferguson FM, Gray NS, Ernst M, Greening DW, Buchert M.
Journal name Proteomics
Publication year 2021
Sample Gastric cancer cells
Sample name MKN1 - 100K pellet
Isolation/purification methods Differential centrifugation
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectrometry
12
Experiment ID 365
MISEV standards
✘ EV Biophysical techniques
✔
TSG101|GAPDH|AQP1|CD151|CD81|CD82|CD9|EPCAM|FLOT1|FLOT2|ICAM1|ITGA2B|LAMP2|RAB35|RAB5A|RAB5B|SDCBP|TFRC|UCHL1
EV Enriched markers
✔
DCLK1
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 33991177    
Organism Homo sapiens
Experiment description Cancer stem cell marker DCLK1 reprograms small extracellular vesicles toward migratory phenotype in gastric cancer cells
Authors Carli ALE, Afshar-Sterle S, Rai A, Fang H, O'Keefe R, Tse J, Ferguson FM, Gray NS, Ernst M, Greening DW, Buchert M.
Journal name Proteomics
Publication year 2021
Sample Gastric cancer cells
Sample name MKN1 - 100K pellet
Isolation/purification methods Differential centrifugation
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectrometry
13
Experiment ID 488
MISEV standards
✔
EM
EV Biophysical techniques
✔
CD9|CD81|CD63|GAPDH|SDCBP|LAMP1|TFRC|UCHL1|FLOT2|LAMP2|FLOT1|ICAM1|RAB5B|CD151|RAB35|TSG101|RAB5A|CD82
EV Enriched markers
✔
CANX
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 36408942    
Organism Homo sapiens
Experiment description Quantitative proteomic analysis of exosomes from umbilical cord mesenchymal stem cells and rat bone marrow stem cells
Authors Xu X, Yin F, Guo M, Gan G, Lin G, Wen C, Wang J, Song P, Wang J, Qi ZQ, Zhong CQ.
Journal name Proteomics
Publication year 2023
Sample Mesenchymal stem cells
Sample name UCMSC
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectometry
14
Experiment ID 211
MISEV standards
✔
EM
EV Biophysical techniques
✔
TSG101|Alix|EpCAM|TFRC
EV Enriched markers
✔
cytochrome c|GOLGA2
EV Negative markers
✘ EV Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23333927    
Organism Homo sapiens
Experiment description Characterization and proteomic analysis of ovarian cancer-derived exosomes.
Authors Liang B, Peng P, Chen S, Li L, Zhang M, Cao D, Yang J, Li H, Gui T, Li X, Shen K.
Journal name J Proteomics
Publication year 2013
Sample Ovarian cancer cells
Sample name IGROV1
Isolation/purification methods Differential centrifugation
Ultracentrifugation
Sucrose density gradient
Flotation density 1.09-1.15 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
15
Experiment ID 212
MISEV standards
✔
CEM
EV Biophysical techniques
✔
TSG101|Alix|EpCAM|TFRC
EV Enriched markers
✔
Cytochrome C|GOLGA2
EV Negative markers
✘ EV Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23333927    
Organism Homo sapiens
Experiment description Characterization and proteomic analysis of ovarian cancer-derived exosomes.
Authors Liang B, Peng P, Chen S, Li L, Zhang M, Cao D, Yang J, Li H, Gui T, Li X, Shen K.
Journal name J Proteomics
Publication year 2013
Sample Ovarian cancer cells
Sample name OVCAR-3
Isolation/purification methods Differential centrifugation
Ultracentrifugation
Sucrose density gradient
Flotation density 1.09-1.15 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
16
Experiment ID 275
MISEV standards
✔
EM
EV Biophysical techniques
✔
TSG101|Alix|RAB5A|CD9|CD82|CD63|CD81
EV Enriched markers
✔
AIF
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 25844599    
Organism Homo sapiens
Experiment description Molecular profiling of prostate cancer derived exosomes may reveal a predictive signature for response to docetaxel.
Authors Kharaziha P, Chioureas D, Rutishauser D, Baltatzis G, Lennartsson L, Fonseca P, Azimi A, Hultenby K, Zubarev R, Ullen A, Yachnin J, Nilsson S, Panaretakis T.
Journal name Oncotarget
Publication year 2015
Sample Prostate cancer cells
Sample name DU145 - Docetaxel sensitive
Isolation/purification methods Filtration
Ultracentrifugation
Sucrose density gradient
Flotation density 1.12-1.19 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry/Flow cytometry/Western blotting
17
Experiment ID 834
MISEV standards
✔
EM
EV Biophysical techniques
✔
LAMP2|CD63|FLOT1|ITGA2B|ICAM1|CD9|CD151|TFRC|RAB5A|GAPDH|AQP1|TSG101
EV Enriched markers
✔
CANX
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35333565    
Organism Homo sapiens
Experiment description LAMP2A regulates the loading of proteins into exosomes
Authors Ferreira JV, da Rosa Soares A, Ramalho J, Máximo Carvalho C, Cardoso MH, Pintado P, Carvalho AS, Beck HC, Matthiesen R, Zuzarte M, Girão H, van Niel G, Pereira P
Journal name Sci Adv
Publication year 2022
Sample Retinal pigment epithelial cells
Sample name ARPE-19
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectrometry
18
Experiment ID 835
MISEV standards
✔
EM
EV Biophysical techniques
✔
CD63|FLOT1|ITGA2B|ICAM1|CD9|CD151|TFRC|RAB5A|GAPDH|AQP1|TSG101
EV Enriched markers
✔
CANX
EV Negative markers
✔
NTA
EV Particle analysis
Identified molecule Protein
Identification method Mass spectrometry
PubMed ID 35333565    
Organism Homo sapiens
Experiment description LAMP2A regulates the loading of proteins into exosomes
Authors Ferreira JV, da Rosa Soares A, Ramalho J, Máximo Carvalho C, Cardoso MH, Pintado P, Carvalho AS, Beck HC, Matthiesen R, Zuzarte M, Girão H, van Niel G, Pereira P
Journal name Sci Adv
Publication year 2022
Sample Retinal pigment epithelial cells
Sample name ARPE-19
Isolation/purification methods Differential centrifugation
Filtration
Ultracentrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Western blotting
Mass spectrometry
19
Experiment ID 63
MISEV standards
✘ EV Biophysical techniques
✔
AQP2
EV Enriched markers
✘ EV Negative markers
✘ EV Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 19056867    
Organism Homo sapiens
Experiment description Large-scale proteomics and phosphoproteomics of urinary exosomes.
Authors Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta R, Wang NS, Knepper MA
Journal name JASN
Publication year 2009
Sample Urine
Sample name Urine - Normal
Isolation/purification methods Differential centrifugation
Flotation density -
Molecules identified in the study Protein
Methods used in the study Mass spectrometry [LTQ]
Western blotting
 Protein-protein interactions for NPC1
  Protein Interactor ExoCarta ID Identification method PubMed Species
No interactions are found.
 Pathways in which NPC1 is involved
No pathways found





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