AutismKB 2.0

Annotation Details for PON1


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Basic Information Top
Gene Symbol:PON1 ( ESA,MVCD5,PON )
Gene Full Name: paraoxonase 1
Band: 7q21.3
Quick LinksEntrez ID:5444; OMIM: 168820; Uniprot ID:PON1_HUMAN; ENSEMBL ID: ENSG00000005421; HGNC ID: 9204
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576NAS-extracellular region14718574
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space7638166
GO:0034364IDA-high-density lipoprotein particle15721011
GO:0034364TAS-high-density lipoprotein particle10479665
GO:0034366IDA-spherical high-density lipoprotein particle16682745
GO:0043231IEA-intracellular membrane-bounded organelle-
GO:0070062IDA-extracellular exosome23376485
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0004063IDA-aryldialkylphosphatase activity7638166
GO:0004064IDA-arylesterase activity7638166
GO:0004064NAS-arylesterase activity1673382
GO:0005509IDA-calcium ion binding15098021
GO:0005543IDA-phospholipid binding10479665
GO:0042803IDA-protein homodimerization activity15772423
GO:0102007TAS-acyl-L-homoserine-lactone lactonohydrolase activity-
GO ID Evidence Qualifier GO_term References
GO:0008203IEA-cholesterol metabolic process-
GO:0009605NAS-response to external stimulus1657140
GO:0009636IBA-response to toxic substance-
GO:0010875IDA-positive regulation of cholesterol efflux15721011
GO:0016311IEA-dephosphorylation-
GO:0019372TAS-lipoxygenase pathway-
GO:0019439IDA-aromatic compound catabolic process15772423
GO:0031667IEA-response to nutrient levels-
GO:0032411IDA-positive regulation of transporter activity15721011
GO:0034445IDANOTnegative regulation of plasma lipoprotein oxidation15342686
GO:0046395IDA-carboxylic acid catabolic process7638166
GO:0046434IDA-organophosphate catabolic process7638166
GO:0046470IDA-phosphatidylcholine metabolic process15721011
GO:0051099IDA-positive regulation of binding15721011
GO:0070542IEA-response to fatty acid-
GO:1902617IEA-response to fluoride-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
PON1rs1157745, rs1859121, rs2237582, rs2269829, rs2299255, rs2299261, rs2375001, rs662, rs705379, rs705381, rs854560, rs854565 Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
PON1rs662, rs705379, rs705381, rs854560 Gene overview in PDGene
Gene Symbol Poly Names Gene overview in SZGene
PON1rs662 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:103295
  • Data Attributes: MGI curated and HomoloGene calculated
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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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