AutismKB 2.0

Annotation Details for ALDH1A1


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Basic Information Top
Gene Symbol:ALDH1A1 ( ALDC,ALDH-E1,ALDH1,ALDH11,MGC2318,PUMB1,RALDH1 )
Gene Full Name: aldehyde dehydrogenase 1 family, member A1
Band: 9q21.13
Quick LinksEntrez ID:216; OMIM: 100640; Uniprot ID:AL1A1_HUMAN; ENSEMBL ID: ENSG00000165092; HGNC ID: 402
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737TAS-cytoplasm2987944
GO:0005829IDA-cytosol-
GO:0005829ISS-cytosol-
GO:0005829TAS-cytosol-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0001758ISS-retinal dehydrogenase activity-
GO:0001758TAS-retinal dehydrogenase activity-
GO:0004029EXP-aldehyde dehydrogenase (NAD) activity224930
GO:0004029IDA-aldehyde dehydrogenase (NAD) activity4015840
GO:0005096TAS-GTPase activator activity1709013
GO:0005497TAS-androgen binding1709013
GO:0018479IBA-benzaldehyde dehydrogenase (NAD+) activity-
GO:0051287ISS-NAD binding12693930
GO ID Evidence Qualifier GO_term References
GO:0001523ISS-retinoid metabolic process-
GO:0006069TAS-ethanol oxidation-
GO:0006081TAS-cellular aldehyde metabolic process1709013
GO:0042572IEA-retinol metabolic process-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0055114IDA-oxidation-reduction process25450233
GO:0061624TAS-fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ALDH1A1ALDH1A110671816189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
ALDH1A1rs2161811, rs348475, rs7027604 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1353450
  • 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