Property Summary

NCBI Gene PubMed Count 128
Grant Count 284
R01 Count 150
Funding $43,032,964.72
PubMed Score 512.80
PubTator Score 497.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
psoriasis 1.500 0.001
osteosarcoma 2.291 0.000
medulloblastoma, large-cell -1.100 0.001
adrenocortical carcinoma -1.988 0.000
tuberculosis -1.300 0.000
lung cancer -1.900 0.008
pancreatic cancer 1.300 0.000
group 4 medulloblastoma -1.400 0.001
lung carcinoma -1.500 0.000
ovarian cancer 1.300 0.000
Gaucher disease type 1 -1.200 0.017
Down syndrome 1.300 0.002

Synonym

Accession O15118 B4DET3 Q9P130
Symbols NPC

Gene

PDB

3GKH   3GKI   3GKJ   3JD8   5F18   5F1B   5HNS   5I31   5JNX   5KWY  

 GWAS Trait (1)

MLP Assay (6)

AID Type Active / Inconclusive / Inactive Description
485313 confirmatory 7586 / 8944 / 304846 qHTS Assay for NPC1 Promoter Activators
485315 summary 0 / 0 / 0 qHTS Assay for NPC1 Promoter Activators: Summary
493203 confirmatory 48 / 41 / 133 qHTS Assay for NPC1 Promoter Activators: Initial hit validation from the primary screen
624117 confirmatory 4 / 20 / 198 qHTS Assay for Rab9 Promoter Activators: Hit Validation Using Renilla Luciferase Read-Out
720526 confirmatory 13 / 18 / 190 qHTS Assay for NPC1 Promoter Activators: Hit Validation Using Renila Luciferase Read-Out for NPC1
720527 confirmatory 43 / 39 / 139 qHTS Assay for NPC1 Promoter Activators: Hit Validation Using Firefly Luciferase Read-Out for NPC1

Gene RIF (105)

PMID Text
26846330 Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions
26818574 these results clearly demonstrated that the over-expression of NPC1 with a defective function in an imatinib-resistant Ph+ acute lymphoblastic leukemia cell line
26771495 Study determined the crystal structure of the primed GP (GPcl) of Ebola virus bound to domain C of NPC1 (NPC1-C); NPC1-C utilizes two protruding loops to engage a hydrophobic cavity on head of GPcl. Upon enzymatic cleavage and NPC1-C binding, conformational change in the GPcl further affects the state of the internal fusion loop, triggering membrane fusion.
26578804 These experiments support a model in which NPC1 protein functions to transfer cholesterol past a lysosomal glycocalyx.
26507101 Fibroblasts from Niemann-Pick type C (NPC) disease patients with low levels of NPC1 protein have high amounts of procathepsin D but reduced quantities of the mature protein, thus showing a diminished cathepsin D activity.
26468524 Here, using live cell imaging, the authors obtained evidence that in contrast to the new model, ebolavirus enters cells through endolysosomes that contain both NPC1 and TPC2.
26338816 NPC1 mutations are substantially enriched in unexplained early onset ataxia, making it high risk group for Niemann-Pick disease type C.
26283546 results uncover Akt as a key regulator of NPC1 degradation and link NPC1 to cancer cell proliferation and migration.
26019327 In a transgenic mouse model, human NPC1 disease was faithfully recapitulated in a NPC1 I1061T mutation knock-in model.
25873482 An isobaric labeling-based quantitative analysis of proteome of NPC1(I1061T) primary fibroblasts when compared with wild-type cells identified 281 differentially expressed proteins based on stringent data analysis criteria, is reported.
More...

AA Sequence

MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGN      1 - 70
VSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTN     71 - 140
VKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFS    141 - 210
DFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFL    211 - 280
LVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNP    281 - 350
GCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIY    351 - 420
QPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQN    421 - 490
SHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATA    491 - 560
LVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAI    561 - 630
MFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVD    631 - 700
NIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFI    701 - 770
DFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIA    771 - 840
IFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCG    841 - 910
GMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCR    911 - 980
PLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSAD    981 - 1050
FIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCE   1051 - 1120
LWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEA   1121 - 1190
LAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKS   1191 - 1260
CATEERYKGTERERLLNF                                                       1261 - 1278
//

Text Mined References (143)

PMID Year Title
26846330 2016 Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions.
26818574 2016 Niemann-Pick disease type C1(NPC1) is involved in resistance against imatinib in the imatinib-resistant Ph+ acute lymphoblastic leukemia cell line SUP-B15/RI.
26771495 2016 Ebola Viral Glycoprotein Bound to Its Endosomal Receptor Niemann-Pick C1.
26578804 2015 Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells.
26507101 2016 Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.
26468524 2015 Ebolavirus Glycoprotein Directs Fusion through NPC1+ Endolysosomes.
26338816 2015 NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening.
26283546 2015 Akt activation increases cellular cholesterol by promoting the proteasomal degradation of Niemann-Pick C1.
26019327 2015 A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
More...