AutismKB 2.0

Annotation Details for AOX1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AOX1 ( AO,AOH1 )
Gene Full Name: aldehyde oxidase 1
Band: 2q33.1
Quick LinksEntrez ID:316; OMIM: 602841; Uniprot ID:ADO_HUMAN; ENSEMBL ID: ENSG00000138356; HGNC ID: 553
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IBA-cytosol-
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0016604IDA-nuclear body-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0004031TAS-aldehyde oxidase activity-
GO:0004854TAS-xanthine dehydrogenase activity8248161
GO:0005506IEA-iron ion binding-
GO:0009055IEA-electron carrier activity-
GO:0016614IEA-oxidoreductase activity, acting on CH-OH group of donors-
GO:0016903IBA-oxidoreductase activity, acting on the aldehyde or oxo group of donors-
GO:0043546IEA-molybdopterin cofactor binding-
GO:0050660IBA-flavin adenine dinucleotide binding-
GO:0051287IEA-NAD binding-
GO:0051537IEA-2 iron, 2 sulfur cluster binding-
GO ID Evidence Qualifier GO_term References
GO:0006954TAS-inflammatory response8248161
GO:0009115IBA-xanthine catabolic process-
GO:0042816TAS-vitamin B6 metabolic process-
GO:0055114IEA-oxidation-reduction process-
GO:0072593TAS-reactive oxygen species metabolic process7570184
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
AOX1ABCA110681312054535 Two-hybrid
AOX1ABCA110653712054535 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88035
  • 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