HCSGD entry for NPC1

1. General information

Official gene symbolNPC1
Entrez ID4864
Gene full nameNiemann-Pick disease, type C1
Other gene symbolsNPC
Links to Entrez GeneLinks to Entrez Gene

2. Neighbors in the network

color bar
This gene isn't in PPI subnetwork.

3. Gene ontology annotation

GO ID

GO term

Evidence

Category

GO:0004872Receptor activityTASmolecular_function
GO:0004888Transmembrane signaling receptor activityTASmolecular_function
GO:0005515Protein bindingIPImolecular_function
GO:0005576Extracellular regionISScellular_component
GO:0005635Nuclear envelopeIDAcellular_component
GO:0005764LysosomeISScellular_component
GO:0005765Lysosomal membraneIDAcellular_component
GO:0005783Endoplasmic reticulumIDAcellular_component
GO:0005794Golgi apparatusIEAcellular_component
GO:0005887Integral component of plasma membraneIDAcellular_component
GO:0006486Protein glycosylationIDAbiological_process
GO:0006897EndocytosisIEAbiological_process
GO:0006914AutophagyIGIbiological_process
GO:0007041Lysosomal transportISSbiological_process
GO:0007165Signal transductionTASbiological_process
GO:0007628Adult walking behaviorIEAbiological_process
GO:0008158Hedgehog receptor activityIEAmolecular_function
GO:0008203Cholesterol metabolic processIEAbiological_process
GO:0008206Bile acid metabolic processISSbiological_process
GO:0015248Sterol transporter activityTASmolecular_function
GO:0015485Cholesterol bindingIDAmolecular_function
GO:0016020MembraneIEAcellular_component
GO:0016021Integral component of membraneIEA TAScellular_component
GO:0016242Negative regulation of macroautophagyIEAbiological_process
GO:0030301Cholesterol transportIDA IEAbiological_process
GO:0031902Late endosome membraneIEAcellular_component
GO:0031982VesicleIEAcellular_component
GO:0033344Cholesterol effluxIDAbiological_process
GO:0042493Response to drugIEAbiological_process
GO:0042632Cholesterol homeostasisIDA ISSbiological_process
GO:0045121Membrane raftIEAcellular_component
GO:0046686Response to cadmium ionIEAbiological_process
GO:0048471Perinuclear region of cytoplasmIDAcellular_component
GO:0060548Negative regulation of cell deathIEAbiological_process
GO:0071383Cellular response to steroid hormone stimulusIEAbiological_process
GO:0071404Cellular response to low-density lipoprotein particle stimulusIEAbiological_process
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4. Expression levels in datasets

  • Meta-analysis result

p-value upp-value downFDR upFDR down
0.00122994190.96316210630.09438279881.0000000000

  • Individual experiment result
    ( "-" represent NA in the specific microarray platform )

Data sourceUp or downLog fold change
GSE11954Up0.1891714983
GSE13712_SHEARUp0.7624821954
GSE13712_STATICUp0.3640103382
GSE19018Down-0.2927846120
GSE19899_A1Up0.3930051767
GSE19899_A2Up0.5249242255
PubMed_21979375_A1Up1.5360669456
PubMed_21979375_A2Up1.3536739845
GSE35957Down-0.2482299640
GSE36640Up1.1740340042
GSE54402Up0.4789693474
GSE9593Up0.9029332800
GSE43922Up1.9132818125
GSE24585Up0.5688861379
GSE37065Up0.2045176259
GSE28863_A1Up0.1186679005
GSE28863_A2Up1.3778846179
GSE28863_A3Down-0.8218908566
GSE28863_A4Up0.0356382502
GSE48662Down-0.4396897217

5. Regulation relationships with compounds/drugs/microRNAs

  • Compounds

Not regulated by compounds

  • Drugs

Not regulated by drugs

  • MicroRNAs

    • mirTarBase

MiRNA_name

mirBase ID

miRTarBase ID

Experiment

Support type

References (Pubmed ID)

hsa-miR-33a-5pMIMAT0000091MIRT004540Luciferase reporter assayFunctional MTI20466885
hsa-miR-33a-5pMIMAT0000091MIRT004540Immunofluorescence//Luciferase reporter assay//Western blotFunctional MTI23547260
hsa-miR-335-5pMIMAT0000765MIRT018683MicroarrayFunctional MTI (Weak)18185580
hsa-let-7a-5pMIMAT0000062MIRT052499CLASHFunctional MTI (Weak)23622248
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    • mirRecord
No target information from mirRecord

6. Text-mining results about the gene

Gene occurances in abstracts of cellular senescence-associated articles: 1 abstracts the gene occurs.


PubMed ID of the article

Sentenece the gene occurs

22178194Affymetrix gene array data showed NeuT-induced alterations in the transcription of many enzymes involved in lipid metabolism, several of which (ACSL3, CHPT1, PLD1, LIPG, MGLL, LDL and NPC1) could be confirmed by quantitative realtime PCR
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