AutismKB 2.0

Annotation Details for ATP8A1


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Basic Information Top
Gene Symbol:ATP8A1 ( ATPASEII,ATPIA,ATPP2,MGC130042,MGC130043,MGC26327 )
Gene Full Name: ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
Band: 4p13
Quick LinksEntrez ID:10396; OMIM: 609542; Uniprot ID:AT8A1_HUMAN; ENSEMBL ID: ENSG00000124406; HGNC ID: 13531
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005783IDA-endoplasmic reticulum21914794
GO:0005794IDA-Golgi apparatus20947505
GO:0005802IBA-trans-Golgi network-
GO:0005886IDA-plasma membrane20947505
GO:0005886TAS-plasma membrane-
GO:0016020IDA-membrane19946888
GO:0016021IEA-integral component of membrane-
GO:0035577TAS-azurophil granule membrane-
GO:0035579TAS-specific granule membrane-
GO:0042584IEA-chromaffin granule membrane-
GO:0043231IDA-intracellular membrane-bounded organelle-
GO:0070062IDA-extracellular exosome23533145
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1330848
  • Data Attributes: MGI curated and HomoloGene calculated

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