AutismKB 2.0

Annotation Details for ATP1A4


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Basic Information Top
Gene Symbol:ATP1A4 ( ATP1A1,ATP1AL2,MGC25056 )
Gene Full Name: ATPase, Na+/K+ transporting, alpha 4 polypeptide
Band: 1q23.2
Quick LinksEntrez ID:480; OMIM: 607321; Uniprot ID:AT1A4_HUMAN; ENSEMBL ID: ENSG00000132681; HGNC ID: 14073
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887NAS-integral component of plasma membrane7809153
GO:0005890TAS-sodium:potassium-exchanging ATPase complex7809153
GO ID Evidence Qualifier GO_term References
GO:0005391TAS-sodium:potassium-exchanging ATPase activity7809153
GO:0005524IEA-ATP binding-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006813TAS-potassium ion transport7809153
GO:0006814TAS-sodium ion transport7809153
GO:0007283IEA-spermatogenesis-
GO:0009566IEA-fertilization-
GO:0010248IEA-establishment or maintenance of transmembrane electrochemical gradient-
GO:0015991TAS-ATP hydrolysis coupled proton transport7809153
GO:0030317IDA-flagellated sperm motility12112599
GO:0030641IDA-regulation of cellular pH12112599
GO:0034220TAS-ion transmembrane transport-
GO:0042391IEA-regulation of membrane potential-
GO:1903779TAS-regulation of cardiac conduction-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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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