AutismKB 2.0

Annotation Details for NPC1


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Basic Information Top
Gene Symbol:NPC1 ( FLJ98532,NPC )
Gene Full Name: Niemann-Pick disease, type C1
Band: 18q11.2
Quick LinksEntrez ID:4864; OMIM: 607623; Uniprot ID:NPC1_HUMAN; ENSEMBL ID: ENSG00000141458; HGNC ID: 7897
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576ISS-extracellular region-
GO:0005635IDA-nuclear envelope12554680
GO:0005764ISS-lysosome-
GO:0005765IDA-lysosomal membrane17897319
GO:0005765TAS-lysosomal membrane-
GO:0005783IDA-endoplasmic reticulum12554680
GO:0005794IEA-Golgi apparatus-
GO:0005887IDA-integral component of plasma membrane10821832
GO:0016020IDA-membrane19946888
GO:0016021TAS-integral component of membrane10521290
GO:0031902IEA-late endosome membrane-
GO:0045121IEA-membrane raft-
GO:0048471IDA-perinuclear region of cytoplasm12554680
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0001618IEA-virus receptor activity-
GO:0004872TAS-receptor activity9211849
GO:0004888TAS-transmembrane signaling receptor activity10521290
GO:0005515IPI-protein binding16757520
GO:0015248TAS-sterol transporter activity9927649
GO:0015485IDA-cholesterol binding18772377
GO ID Evidence Qualifier GO_term References
GO:0006486IDA-protein glycosylation10821832
GO:0006897IEA-endocytosis-
GO:0006914IGI-autophagy19074461
GO:0007041ISS-lysosomal transport-
GO:0007165IEA-signal transduction-
GO:0007628IEA-adult walking behavior-
GO:0008203IEA-cholesterol metabolic process-
GO:0008206ISS-bile acid metabolic process-
GO:0016242IEA-negative regulation of macroautophagy-
GO:0030301IDA-cholesterol transport18772377
GO:0031579IMP-membrane raft organization23360953
GO:0033344IDA-cholesterol efflux16141411
GO:0034383TAS-low-density lipoprotein particle clearance-
GO:0042493IEA-response to drug-
GO:0042632IDA-cholesterol homeostasis12719428
GO:0042632ISS-cholesterol homeostasis-
GO:0046686IEA-response to cadmium ion-
GO:0046718IMP-viral entry into host cell21866101
GO:0060548IEA-negative regulation of cell death-
GO:0071383IEA-cellular response to steroid hormone stimulus-
GO:0071404IEA-cellular response to low-density lipoprotein particle stimulus-
GO:0090150IDA-establishment of protein localization to membrane23360953
GO:2000189IMP-positive regulation of cholesterol homeostasis9927649
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NPC1LRP611092518948618 Affinity Capture-Western
NPC1LRP611021918948618 Affinity Capture-Western
UBCNPC111092516757520 Affinity Capture-Western
UBCNPC111316416757520 Affinity Capture-Western
VPS4ANPC111092516757520 Affinity Capture-Western; Co-localization; Reconstituted Complex
VPS4ANPC111805916757520 Affinity Capture-Western; Co-localization; Reconstituted Complex
OSBPL5NPC111092521220512 Affinity Capture-Western
OSBPL5NPC112538021220512 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
NPC1rs1631685, rs1788799, rs18050810 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:1097712
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030131-3161'