AutismKB 2.0

Annotation Details for NPC1L1


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Basic Information Top
Gene Symbol:NPC1L1 ( NPC11L1 )
Gene Full Name: NPC1 (Niemann-Pick disease, type C1, gene)-like 1
Band: 7p13
Quick LinksEntrez ID:29881; OMIM: 608010; Uniprot ID:NPCL1_HUMAN; ENSEMBL ID: ENSG00000015520; HGNC ID: 7898
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0016021IDA-integral component of membrane19325169
GO:0016324IEA-apical plasma membrane-
GO:0030659IEA-cytoplasmic vesicle membrane-
GO:0031526IEA-brush border membrane-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding19542231
GO:0008144IEA-drug binding-
GO:0017137IPI-Rab GTPase binding19542231
GO:0031489IPI-myosin V binding19542231
GO ID Evidence Qualifier GO_term References
GO:0006695IMP-cholesterol biosynthetic process17140581
GO:0030299IMP-intestinal cholesterol absorption17140581
GO:0030301IMP-cholesterol transport17140581
GO:0042157IMP-lipoprotein metabolic process17140581
GO:0042493IEA-response to drug-
GO:0098856TAS-intestinal lipid absorption-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2685089
  • Data Attributes: HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018