AutismKB 2.0

Annotation Details for PCSK9


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Basic Information Top
Gene Symbol:PCSK9 ( FH3,HCHOLA3,LDLCQ1,NARC-1,NARC1,PC9 )
Gene Full Name: proprotein convertase subtilisin/kexin type 9
Band: 1p32.3
Quick LinksEntrez ID:255738; OMIM: 607786; Uniprot ID:PCSK9_HUMAN; ENSEMBL ID: ENSG00000169174; HGNC ID: 20001
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space12552133
GO:0005737IDA-cytoplasm22580899
GO:0005764IDA-lysosome17461796
GO:0005765TAS-lysosomal membrane-
GO:0005769IDA-early endosome17461796
GO:0005770IDA-late endosome17461796
GO:0005783IDA-endoplasmic reticulum17461796
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0005791IEA-rough endoplasmic reticulum-
GO:0005794IDA-Golgi apparatus17461796
GO:0005886IDA-plasma membrane18799458
GO:0009986IDA-cell surface17461796
GO:0030134IEA-ER to Golgi transport vesicle-
GO:0031232IC-extrinsic component of external side of plasma membrane17328821
GO:0036020TAS-endolysosome membrane-
GO:0048471IDA-perinuclear region of cytoplasm18039658
GO:1990666IDA-PCSK9-LDLR complex22848640
GO:1990667IDA-PCSK9-AnxA2 complex22848640
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22658674
GO:0004252IDA-serine-type endopeptidase activity12552133
GO:0005515IPI-protein binding17461796
GO:0019871IDA-sodium channel inhibitor activity22493497
GO:0030169ISS-low-density lipoprotein particle binding-
GO:0030547IDA-receptor inhibitor activity22848640
GO:0034185ISS-apolipoprotein binding-
GO:0034189ISS-very-low-density lipoprotein particle binding-
GO:0034190IDA-apolipoprotein receptor binding18039658
GO:0043621IDA-protein self-association18197702
GO:0050750IDA-low-density lipoprotein particle receptor binding17080197
GO:0050750IPI-low-density lipoprotein particle receptor binding17452316
GO:0070326IDA-very-low-density lipoprotein particle receptor binding18039658
GO ID Evidence Qualifier GO_term References
GO:0001822ISS-kidney development12552133
GO:0001889ISS-liver development12552133
GO:0001920IDA-negative regulation of receptor recycling17452316
GO:0002092IDA-positive regulation of receptor internalization17328821
GO:0006641IEA-triglyceride metabolic process-
GO:0006644IEA-phospholipid metabolic process-
GO:0006915IEA-apoptotic process-
GO:0007041IDA-lysosomal transport17452316
GO:0008203IEA-cholesterol metabolic process-
GO:0009267ISS-cellular response to starvation16407292
GO:0010469IDA-regulation of receptor activity17328821
GO:0010989IDA-negative regulation of low-density lipoprotein particle clearance17328821
GO:0016540IDA-protein autoprocessing14622975
GO:0022008ISS-neurogenesis12552133
GO:0030182ISS-neuron differentiation12552133
GO:0032802IDA-low-density lipoprotein particle receptor catabolic process16912035
GO:0032802TAS-low-density lipoprotein particle receptor catabolic process-
GO:0032805IDA-positive regulation of low-density lipoprotein particle receptor catabolic process22848640
GO:0032869ISS-cellular response to insulin stimulus12552133
GO:0034383TAS-low-density lipoprotein particle clearance-
GO:0042157IEA-lipoprotein metabolic process-
GO:0042632IMP-cholesterol homeostasis17170371
GO:0043523ISS-regulation of neuron apoptotic process-
GO:0043525IMP-positive regulation of neuron apoptotic process17051583
GO:0043687TAS-post-translational protein modification-
GO:0044267TAS-cellular protein metabolic process-
GO:1905596IDA-negative regulation of low-density lipoprotein particle receptor binding22848640
GO:1905598IDA-negative regulation of low-density lipoprotein receptor activity22848640
GO:1905601IDA-negative regulation of receptor-mediated endocytosis involved in cholesterol transport22848640
GO:2000650IDA-negative regulation of sodium ion transmembrane transporter activity22493497
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
PCSK9rs11583680, rs662145 Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
PCSK9rs1165287, rs516499 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:2140260
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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


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