AutismKB 2.0

Annotation Details for ATP8B1


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Basic Information Top
Gene Symbol:ATP8B1 ( ATPIC,BRIC,FIC1,PFIC,PFIC1 )
Gene Full Name: ATPase, aminophospholipid transporter, class I, type 8B, member 1
Band: 18q21.31
Quick LinksEntrez ID:5205; OMIM: 602397; Uniprot ID:AT8B1_HUMAN; ENSEMBL ID: ENSG00000081923; HGNC ID: 3706
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IDA-endoplasmic reticulum21914794
GO:0005794IDA-Golgi apparatus20947505
GO:0005886IDA-plasma membrane20947505
GO:0005886TAS-plasma membrane-
GO:0005887NAS-integral component of plasma membrane12880872
GO:0016324IDA-apical plasma membrane11682026
GO:0031526IEA-brush border membrane-
GO:0032420IEA-stereocilium-
GO ID Evidence Qualifier GO_term References
GO:0000287IEA-magnesium ion binding-
GO:0004012TAS-phospholipid-translocating ATPase activity12880872
GO:0005515IPI-protein binding19731236
GO:0005524IEA-ATP binding-
GO:1901612IEA-cardiolipin binding-
GO ID Evidence Qualifier GO_term References
GO:0006855IDA-drug transmembrane transport20510206
GO:0007030IBA-Golgi organization-
GO:0007605IEA-sensory perception of sound-
GO:0008206IEA-bile acid metabolic process-
GO:0015721NAS-bile acid and bile salt transport12880872
GO:0021650IEA-vestibulocochlear nerve formation-
GO:0032534IMP-regulation of microvillus assembly20512993
GO:0034220TAS-ion transmembrane transport-
GO:0045332IDA-phospholipid translocation20510206
GO:0045332NAS-phospholipid translocation21914794
GO:0045892IMP-negative regulation of transcription, DNA-templated16628629
GO:0060119IEA-inner ear receptor cell development-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1859665
  • Data Attributes: 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