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Gene, Transcriptome, Protein, Pathway or Disease. 

Gene basic information

LiverAtlas Gene ID

HuLG003239

Entrez Gene ID

4864

Official Gene Symbol

NPC1

Synonyms

FLJ98532|NPC

Gene name

Niemann-Pick disease, type C1

Gene Type

protein-coding

Chromosome

18

Genomics Location

18q11-q12

Known cancer genes

Yes

Protein products

Niemann-Pick C1 protein

Related liver disease name

Hepatocellular carcinoma

Niemann-Pick's disease

Database cross reference

HGNC:7897
MIM:607623
Ensembl:ENSG00000141458
HPRD:09622
RefSeq Genomic nucleotide accession:AC_000061
RefSeq Genomic nucleotide gi:89161196

Liver relevance

HCC significant genes

Yes/No

Yes

Evidence

EHCO HCC.net

Quality score

 

Ontology annotation

GO ID

GO annotation

GO:0004872

receptor activity

GO:0004888

transmembrane receptor activity

GO:0005515

protein binding

GO:0005624

membrane fraction

GO:0005635

nuclear envelope

GO:0005764

lysosome

GO:0005765

lysosomal membrane

GO:0005768

endosome

GO:0005783

endoplasmic reticulum

GO:0005794

Golgi apparatus

GO:0005886

plasma membrane

GO:0005887

integral to plasma membrane

GO:0006897

endocytosis

GO:0006914

autophagy

GO:0007041

lysosomal transport

GO:0007628

adult walking behavior

GO:0008158

hedgehog receptor activity

GO:0008206

bile acid metabolic process

GO:0015248

sterol transporter activity

GO:0015918

sterol transport

GO:0016021

integral to membrane

GO:0016242

negative regulation of macroautophagy

GO:0031902

late endosome membrane

GO:0031982

vesicle

GO:0033344

cholesterol efflux

GO:0042493

response to drug

GO:0042632

cholesterol homeostasis

GO:0045121

membrane raft

GO:0046686

response to cadmium ion

GO:0048471

perinuclear region of cytoplasm

GO:0071383

cellular response to steroid hormone stimulus

GO:0071404

cellular response to low-density lipoprotein particle stimulus